Expect the Unexpected: Rare Mutation Frequencies

23andMe’s genetic health reports cover 191 rare genetic mutations in addition to more common variants related to disease. While it’s relatively easy to learn about common variants, our knowledge of rare mutations traditionally has come from very small studies limited to specific populations, like French Canadians living in Quebec or people with Ashkenazi Jewish ancestry. 23andMe’s 180,000+ customers, however, provide a unique opportunity to learn about these mutations in a more general population.Within a large group of 23andMe customers who have consented to participate in research, we see that most of these mutations are indeed most common in the populations that have already been studied, but some are showing up in people whose ancestries have not been linked to that mutation before.  I presented data about these mutations in a poster at the annual meeting of the American Society of Human Genetics (ASHG) last week in San Francisco.Why might these mutations appear in people with ancestries other than those that have been studied? Perhaps our definitions of ancestry aren’t thorough enough and these people do actually have some of the expected ancestry.  But it’s also possible that some mutations are present in these other populations and this is simply the first time researchers have documented it.This second possibility has far-reaching implications.  Couples planning to have children are often screened for genetic mutations that could cause inherited diseases in their children. Typically, they are screened for specific mutations thought to be most common in their ancestral group. Our data shows that many mutations can occur in people outside those ancestral groups. Add to that the fact that many people might not know all the details of their ancestry and the argument for broader screening becomes stronger.Although it is clear that more research is needed, these observations may be an important first step towards better understanding who may be affected by rare genetic mutations.
  • Maureen Markov

    When I went for my yearly mamogram yesterday, the Shaw Medical Center (in Colorado-oncology) asked if I were at all Ashkenazi genetically as part of their usual check in procedure. Is this an example of your observations?

    Have not been asked that before at this setting, so I wonder if the assiciation is something still being studied now or is already established? (I have had in situ ductal breast cancer even though not particularly at risk in results here).

    • Joam H Griffith

      I’d say it is established. Recently, a researcher in the American Southwest realized she was seeing a lot of breast cancer in the area (see smithsonianmag.com) and suspected the people were conversos, Jews who outwardly were Christian, but secretly were Jews. DNA proved this. Altho some of the people had no idea, others had menorahs and sacred books hidden away.

      • miriamhamsa

        No suspicion about it. Probably the majority of the original Hispanic settlers in New Mexico and Southern Colorado are of Jewish descent. But they are Sephardic, not Ashkenazi, so the question was wrong. Researchers only recently discovered that the so-called Ashkenazi breast cancer gene was also common among Sephardic Jews.

        • cuah123

          And also common in people of their Ashkenazi host populations in the Mediterranean, which Latins of the Southwest also belong to, such as Italians, Greeks, North Africans etc…one not need to create a super mythology to see a simpler answer.

        • Herbert

          Since Jews and Arabs share the same common ancestor, the link to Islam in former Hispanic colonies may be politically overlooked, however, Spain was Arab from 711 to 1492. Presumably the Arabs had sexual relations while occupying Spain. That would link Spanish DNA to Arab DNA leaving most of Hispanic America with Arab DNA.

      • Anonymous

        Someone can be ethnically Jewish and a Christian. That’s pretty much what the early Christian Church was for the first 2 decades of its existence.

        • Vance P. Frickey

          An example of this is Tay-Sachs Disease, endemic in Southwest Louisiana because some people who are culturally Cajun in that part of the world are ethnically at least part Ashkenazim. The town there called “Kaplan” should have been a dead giveaway.

          But geneaology is an imperfect science – before I came down with cancer and became a contraindicated donor of ANY tissue, I assumed when filling out blood marrow donor questionaires and other donor documents based on my south German ancestry that there was a decent chance I had some Ashkenazi DNA in MY cells, and reported accordingly.

        • Craig

          Jews do not own Tay-Sachs disease. Tay-Sachs is also common among French Canadians. French Canadians had a somewhat small founding population of Mediterraneans – just like Ashkenazi Jews. The French Canadians that were expelled from Acadia (the “Cajuns”) brought this unfortunate mutation with them. The disease is also endemic among Cajuns because of a high degree of inbreeding – just like the Ashkenazi Jews.

        • Amy

          French Canadians are not Cajuns. For lack of research many sites and studies have lumped them together but I recommend researching further. They are two distinct groups. The Acadians did not reside in Quebec. The French Canadians did. Acadians lived in Nova Scotia, New Brunswick, and Prince Edward Island prior to exile. They were originally from the south of France near the border of Spain.

          The French Canadians were from the mid-west in France. Upon relocating to Canada they resided in the Quebec and Montreal area. Most of them remain there today. A few relocated to Southern Louisiana when it was proclaimed that the French (because of the Acadians) were welcome here.

          These groups did migrate to North America together either. They had different surnames, very different cultures, different beliefs, and different social status (at the time). I have a French Canadian grandmother and an Acadian grandmother. They give distinct differences between the groups of people. Until the last generation or so there was not much intermarrying of these two groups. In some families it was forbidden. This had more to do with social status than anything else.

          I know of all of this because I have a son with a condition that is often seen in those of Acadian descent. I’ve had to do extensive research on the topic. We’ve also had testing done. The genetic mutation is from the Acadian heritage. It was not found in any of my French Canadian family who offered to be tested. When doing this type of research I find it extremely important to distinguish the groups of people for the sake of irrefutable science. Louisiana has been offering this type of research for the last few years and many have opted to be a part. These are two different groups of people and each has it’s own set of genetic mutations specific to them. Lumping them together is to set back the research done.

          Also, just an FYI, most of these people have been “inbred” because they were unaware. The Acadians had no record of birth, death, marriage, or baptism because it was all destroyed by the British as part of the exile. Families were separated and other people were forced to raise the children of others. They didn’t know who was related to who. To this day we have trouble tracing our family trees because some children are not the birth children of the parents that had to raise them generations ago. It makes for one challenge of a genealogy project.

          We also discovered that this particular condition is also predominant in other sub cultures leading the geneticists to suspect that mutations are a common occurrence regardless of region or ethnicity. They are just more obvious in concentrated groups.

        • Dana

          Kaplan is not the town in Louisiana with the highest rate of Tay-Sachs. That dubious honor goes to Iota, Louisiana, where both my parents attended high school. If “Kaplan” is supposed to be a Jewish name, explain that.

          I’m not saying it *can’t* be a Jewish name or that there’s anything wrong with a town having a Jewish name, but let’s watch out for the wishful thinking.

          By the way, T-S shows up quite a bit in Irish people too.

        • Dana

          Oh and FYI there are three distinct groups of French in Louisiana. There are the Acadians, there are whatever French Canadians settled the area and then there are descendants of direct immigrants from France. My father’s line came straight from France. That was likely one of the factors protecting me from the Tay-Sachs gene. I don’t know where my mom’s people come from though. I don’t remember seeing her maiden name on the Acadian name lists; I really should go look again.

      • EarlGrayHot

        So…you’re saying they were practicing Christians but were actually Jewish? Why would they have “secret” Jewish artifacts otherwise?

    • Frank Rowlette

      First, let me say, I am NOT as educated as some who have posted here on this site. I only know what I have learned from searching through many hard copy and online articles and information I learned from working campus law enforcement for a Medical University where I had a good friendship with the faculty and most students. I started my search after twice being near death due to one of the diseases related to the Ashkenaz ancestry; Ulcerative Colitis. In those two incidents of extreme pain and much blood loss I was advised I had his condition. At that time I had no idea what it was (until the doctor advised me) or what caused it. As I became older I decided to learn more about the problem and cause, because I turned out to be allergic to the primary medications for it. I first started learning that some folks had success in controlling it through diet, which is how I have survived, so far, to age 74, without having the colon removed as recommended by doctors. I decided I would not be able to accept the condition of having a bag on my side. Since going the diet route, which I worked out by myself, I have not had another life threatening event from the condition. Now to what I have learned about the Ashkenazi connection:

      Info about the Ashkenazi Jews can be found many places now days with the coming of he internet. The best I have found in various readings shows that; Ashkenaz was a grandson of Noah (see copy and pasted insert part highlighted),
      Genesis Chapter 10 Next >>

      Viewing the Standard King James Version (Pure Cambridge). Click to switch to 1611 King James Version of Genesis Chapter 10

      1 Now these are the generations of the sons of Noah, Shem, Ham, and Japheth: and unto them were sons born after the flood.
      2 The sons of Japheth; Gomer, and Magog, and Madai, and Javan, and Tubal, and Meshech, and Tiras.
      3 And the sons of Gomer; Ashkenaz, and Riphath, and Togarmah.
      4 And the sons of Javan; Elishah, and Tarshish, Kittim, and Dodanim.

      who led his portion of the Jewish tribe (Ashkenazi’s) into what is now known as Italy and France. Later some of that group moved on into what are now Germany and Russia. Understandably some, or many, eventually married out of their original tribe, which is probably a good thing as that would tend to dilute the genetic problems that occur in too many inbred offspring in the tribal setting. Going on, eventually some of those, from both the inbred and the intermingled came to America, where there would be more intermingling.
      Medical research has some time ago determined there are several medical “defects” found in the DNA of many, if not all, the descendants of the tribe of Ashkenaz.
      I had not heard about a connection with your medical issue, but then I was not concerned with that, only the issue that affected me.
      The internet is a wonderful source for all sort of information. I don’t know how mankind got so far without it.
      Here is a link to a page of links to information that might be of value, to you:
      Also, being retired and not much to do, I would be willing to help you do research (over the internet, not in person), if you would want me to. I make this offer regarding either the Ashkenaz connection or the cancer, either or both.
      My last employment was self-employed as a criminal investigator, a talent it turns out I was well suited for. The internet was a huge help in those investigations and I learned to do searches well.
      You are free to contact me directly, if you desire, chiron@primary.net is my direct e-mail address. I am Frank Rowlette and live in Kansas City, Missouri, U.S.A., I am NOT trying to do anything except offer help to someone who might need or want it.
      A number of years ago I had an event the doctors called “sudden cardiac death” in which the medical record shows I was clinically dead for 45 minutes. As opposed to other’s stories of “near death” I was informed I could remain in Paradise or return to life on earth to try to help others who needed help. I am only trying to comply with the decision I made at that time, in hopes that I can return to God’s presence once again, when that final time comes.
      In any event, I wish you a long and productive life, full of joy and happiness as well as good health.

      • Emgee

        Just…W O W….

        • Jesus


      • george castor

        interesting story…can you tell us a bit about the diet you use to control your condition?

        • Dana

          I don’t know what diet Frank is using but I have heard amazing stories from people with IBD and Crohn’s who got both those conditions under control with Paleo. The Specific Carbohydrate Diet (SCD) and the Gut And Psychology Syndrome (GAPS) diet are also tremendously helpful, and ethnicity doesn’t matter much, if at all.

      • md2205

        The name Ashkenazi derives from the biblical figure of Ashkenaz, the first son of Gomer, and a Japhetic patriarch in the Table of Nations (Genesis 10). In the rabbinic literature, the kingdom of Ashkenaz was first associated with the Scythian region, then later with the Slavic territories,[12] and, from the 11th century onwards, with northern Europe and Germany.[13] The Jews living in these regions associated with Ashkenaz’s kingdom thus came to call themselves the Ashkenazi.[13] Later, Jews from Western and Central Europe also came to be called Ashkenazi because the main centers of Jewish learning were located in Germany.

        In other words, Ashkenaz doesn’t refer to Jews who moved to Europe. It refers to the places in Europe that stated in this definition of Ashkenaz. Jews descend from Jacob, who came after Ashkenaz. Thousands of years later, Jews moved to the Ashkenazi lands, and were thus referred to as Ashkenazi.

        • Nina

          That’s all well and good, but what was the diet Frank used to help his condition?

        • lhhccn

          How can Askenazi “Jews” be descendants of Noah from Japheth? Jews are descendants of Judah, who was a descendant of Abraham, a Semite. He was a descendant of Shem. There is no connection then, between descendants of Shem and descendants of Japheth.

        • Gretab

          He not saying that Jew’s are descendents from Japheth. He is saying that the lands they lived in after they moved to Europe are the areas settled by descendants Askenazi so they are named after him. Think of it this way, probably no American is an actual descendant of Amerigo Vespucci, yet we live in a county named after him and are identified by his name.

      • Kelli Baxter

        You can learn more about the Ashkenazi in a book called “DNA USA” by Sykes. It is only a small section of the book and I only remember it is somewhere in the first ten chapters or so. The author has written many books on DNA decoding that are very interesting. I have read The seven daughters of Eve” and I am now reading “DNA USA”, but the author has written more. Sykes ideas and research relate to many of these comments.

      • Bob Pegram

        I suggest reading a book called THE THIRTEENTH TRIBE by Arthur Koestler, a secular Ashknazi Jew. He thoroughly documents that the leader of a country between the Caspian and Black Seas was being attacked by the Ottoman Empire to convert to Islam and by the Byzantine Empire to convert to Christianity (such as Byzantine Christianity was), approximately7th-8th century. The chief advisor to the leader of this country, the Khazar Empire, was a Hebrew (Sephardic). He convinced the Khazar leader to convert his country to Judaism so they would stop being attacked. He did that and they stopped being attacked. THAT is where Ashkenazi Jews come from. Ashkenazis are Khazars, not Hebrews.
        Koestler documents correspondence between Hebrew scholars in Spain and the Khazar leadership asking who they were since the scholars knew where all the Jews were in the world and had never heard of a Jewish nation in that area. The Khazar leaders wrote back explaining their history and why they converted to Judaism.
        Unfortunately, this book is sometimes used by anti-Semites who, I guess, are looking for any excuse for their bigotry. I don’t understand why this would make any difference even in their twisted minds. It doesn’t change the historical accuracy of it though.
        Separate background of some Jews: When Jewish people went into Europe they followed biblical law and took slaves of the inhabitants. When slaves converted to Judaism they were realeased on the Sabbath year, again according to biblical law. A lot of European Jews are descendents of these freed slaves and are of European descent. That explains some Jewish people who look like Paul Neuman with blue eyes and blonde hair. With a few exceptions, the ancestry of Jewish people is as mixed up and everybody else in the United States.

        • yo hal

          Lol please some more background… It is never been open 100% accepted that the khazar story is true, but at least what makes you think that ashknazi jews come from there? In fact khazar is supposed to be in asia by the kaspian sea nothing with german italy and french were the ashknazi jews were 1000 years ago concentrated, it would make much more sense to say that the ashknazi jews were descentes of the people that titus captured during the destruction of the tample and brought them to rome
          But even more inaccurate is the claim about slaves, what proves u that the jews bought slaves there? And also a non jewish slave was not able to convert to judisam and the rule of 7 years isn’t said on a non jewish slave anyway

  • Penel Van Eynde

    Familial Partial Lipodystrophy – Dunnigan. They tell me its rare, but I have it and many in my family have it. Through the internet I’ve networked with others who have it. When is FPLD-Dunnigan going to get on the 23andme radar? Dr. Garg (in Texas) apparently the world’s authority on FPLD tells us its the result of a mutation on the 1st chromosome.

  • Jenny Stephenson

    Re: the statement “Our data shows that many [of these rare] mutations can occur in people outside those ancestral groups,” Unless I’m misunderstanding, it looks like the data is silent as to whether these rare mutations occur in the general population– because the data is incomplete.

    Virtually all of us have some genetic inheritance from each of our 16 great-great grandparents, but isn’t information about great-grandparents’ and 2nd great grandparents’ ancestry beyond the scope of information that is collected by 23andme for their autosomal DNA testing? (If I recall correctly, I was asked about where my grandparents were born, but it didn’t go further than that.) Is this self-reported lineage back to grandparents the way that 23andme decides whether someone is Ashkenazi Jewish, French Canadian, or of “the more general population?”

    I think that your final conclusion is correct– that screening for these rare mutations should be broader than it is, but the ancestry information that participants submit upon signing up for autosomal DNA testing is too shallow to show that these rare mutations are present in “the more general population.” A rare genetic mutation occurring in someone who is deemed by 23andme to be in the “more general population” might easily have originated with a great-grandparent about whom 23andme collected no ancestry data. (Eg. in my case I have one great-grandmother who was 100% French Canadian–one of the populations that is most studied for these genetic mutations–yet no info. was requested about great-grandparents when signing up for the autosomal DNA test.) As you noted above, many people don’t know much about their ancestry, and that, as much as anything, is a reason for broader screening. People may be part of a group that they don’t know they’re part of.

    • Jose A. Solis

      Back before Columbus, the king and queen of Spain, who were Catholics, Commanded that A large group of Jewish peoples, who did not want to convert to Catholics, should leave Spain.

      As I have read in history books, these Jewish people immigrated to Cuba. which happened to be a Spanish
      colony at the time. So, there may be many Cubans who are not aware that they are in fact decendants

      of this Jewish clan. THis knowledge may save many lives. If , I am wrong please do correct me.

      • Craig

        You are not wrong at all. The Catholic Monarchs expelled the Muslims and Jews from Spain. For the Muslims, there were only two fates – death or moving to Africa. Luckily, the Jews had a third option. They could practice their faith if they moved to the New World. There they could escape the Inquisition and practice their faith in (relative) peace and they did have to pay an extra tax.

        Largely because of social pressure and isolation (colonial life was not easy), these Jews converted but added many traditions to the local cultures. That being said, there are large pockets of Hispanics in the New World that bear the genetic markings of their Jewish forebears.

      • Bob Pegram

        The last day Jews were allowed in Spain was August 31, 1492 at midnight. Christopher Columbus’ ships set sail on August 31, 1492 at midnight. Much of his crew was Jewish. There was even a Rabbi included in the crew. They were headed to a large Jewish settlement on the east coast of India on the latitude they sailed. They didn’t know two continents were in the way.
        This is from a man whose father was a Rabbi in Beverly Hills when he was a kid. I forget his name.

      • yo hal

        Lol the jews that came from spain are actually sfardis not ashknazis (sfard means spain)

  • jr

    With the greatly increased global travel of the last century and more importantly the mixing of races and ethnic groups that is occuring world wide is it any wonder????

    • cc

      My thoughts exactly. We must not ignore the fact that more and more humans are intermingling across all sorts of barriers, including race and ancestry.

    • Allan Richardson

      Not just recently; plenty of mixing occurred in ancient times as well, it just took longer. Irish-looking Turks in Ankara? Sure: Celtic Gauls invaded Italy, Rome bought them off, and later pushed them out; Gauls migrated to Anatolia, formed the kingdom of Galatia, later a Roman province (ref. Paul’s letter to them in the NT), now part of Turkey. And my 11th grade English teacher (blessings upon her) in the early 1960’s said that as an Ashkenazi Jew, she was sure she was part African, saying “my ancestors sojourned 400 years in Egypt, and I know my ancestors were looking at those Egyptian dancing girls.” Meriweather Lewis, according to some people, was killed to suppress evidence of pre-Columbian Welsh migration to America. Spanish sailors with partial Moorish ancestry from the Spanish Armada washed up on the Irish shore when their ships were wrecked, and blended into the Irish population (easier to do because of their common Catholic faith). And genealogists have discovered that Queen Charlotte, the wife of King George III of England, an ancestress of the British royal family today, who came from the royalty of Portugal, had part Moorish ancestry. Naturally that doesn’t get wide mention!

      So, people have always had mixed genes. It’s happening faster these days..

      • Mungo

        People did get around much more than mainstream history records. But there is no evidence the survivors of the Spanish Armada settled in Ireland. The black ancestry of QE II was apparently well known in England at the time of her marriage and coronation and even prior to that.

      • Eileen

        Interesting…My ancestors from Galway, Ireland, included Spanish Jews who arrived in the 1500s. This was unknown to us up until about 20 years ago. Shortly after that revelation I learned I had a certain form of anemia common in people from the Mediterranean and Africa. It’s good to know these things.

        • Seamus

          The stories about the survivors of the Spanish Armada settling in the north and west of Ireland and intermarrying(“The Black Irish”) have been discredited by historians. When the few survivors who did make it ashore were discovered, they were turned over to the English and killed almost immediately if they weren’t worth ransoming. However, Galway was a major trading port, and more than a few Spanish traders and sailors may have left their genes in the pool.
          There is evidence through Celtic legends and myths of a Celtic migration from Spain to Ireland led by one Milesius-the south coast of the Ireland is an easy sail from the north coast of Spain. The Irish, in addition to the Celtic “stock”, have a fair amount of Nordic DNA from hundreds of years of Viking settlement-Dublin, Waterford, and several other Irish cities were founded as Viking trading posts. There’s also a good sprinkling of English(Anglo-Saxon) as various waves of settlers from Britain washed up on Irish shores, and there’s some French Huguenot and Palatine German in the Irish woodpile as some immigration and intermarriage took place. So the Irish are really a bunch of mongrels-Celtic/Norse/Anglo-Saxon/French/German-and before anyone takes offense, I’m a first-generation Irish-American, and all of the above can be verified with a little Googling..Cheers, Seamus

      • Dana

        When I looked up my surname (a French name) on Facebook to see what relatives were on the site, which is very easy since my name is weird and rare, I found several with names spelled in Cyrillic. I dug a little deeper and what do you know, I have relatives in Russia. I have to wonder if they got there via Napoleon’s army and decided to stay. I know people with my surname were alive in the 1200s around Toulouse, so that wouldn’t be much of a stretch.

    • Georgine

      Go back far enough and we are all related. Case closed.

      • Allan Rchardson

        True. ALL of us have African roots, but some of our ancestors left Africa earlier than others. Maybe 35,000 years earlier.

  • hiam

    Well first off being jewish is not being part of a nationality nor is it an ethnic group. Its a religon like any other. Christains could also be considered an ethnic group using the same rationality. So point being this is flawed because you are looking at this in the wrong way. Study the region where people are from and you will find their genetic makeup. This flawed idea of turning a religon into a some sort of nationality is bogus and hurting progress in this area. I know some people might not like my comment, but it must be said because its true.

    • Hiai


      Your claim of authority on the definition of Jewish is spurious at best. Depending upon the nation and the timeframe, Jewish has often been either to describe the religion or the “Hebrew” ethnicity or both. Since modern usage in Western society often refers to Hebrew specifically as simply the Hebrew language, Jewish is very often used to describe people of a particular branch of Semitic heritage as Jewish, to differentiate that ethnic heritage from other Semitic descent, such as the various Arabian bloodlines that are also Semitic in nature. I make no judgment about the precision of such usage, but it cannot be denied that it is highly prevalent.
      When used in this regard, Jewish is a term to describe ethnicity exclusively and has no bearing whatsoever on the religion practiced by the individuals that belong to that particular sub-set of ethnicity. For that matter, if used in that context, it becomes ever more important in terms of genetic heritage, as is the subject here.
      Your definition of Jewish being applicable only to religious practices is contrary to modern usage in this context, and becoming moreso as time progresses. Also, your emphasis on regional origin is outmoded in today’s globe-travelling society and becoming ever more irrelevant.
      If you insist on some sort of semantic precision in genetic bloodline definition, then you marginalize your own contributions by signalling your narrow-mindedness before the debate even begins. You would do well to quit pretending that you don’t know what people mean when they use certain terms and move on to make your points based on that understanding, rather than bogging yourself down in the semantic details of terminology, to the detriment of your own observations.
      If you wish to make some actual commentary as to the genetic significance of religious or regional practices, then please do so. Otherwise, your comment may be assumed to be made solely for the purpose of being inflammatory in a forum that has little tolerance for off-subject “trolling”.

      • cuah123

        Actually Hiam is correct, the study of creation of data sets around a group that has been bottlenecked in various parts of history and for the most part are autosomally related to their host populations is very suspicious. Behar et al showed that Jewish people at not necessarily related to each other and for the most part distinct. The Hebrews coming from Iraq have not been genetically present in any of the Sephardic or EEJ autosomal studies. As of recent EEJ appears to have originated out of Italy, perhaps around 1ad, there are plenty of studies supporting this. Second Sephardic appears to be incredibly 1 to 1 related to Kurds…remove the centric-religious filter and what you see is a much simpler explanation, Sephardic’s might be Kurds brought to Spain by the Moors, after the Re-conquest they simply integrated, or assimilated, or joined a local non Diaspora Roman-Jewish community,

        • Wendy


          Jewish is both an ethnicity and a religion. People are ethnic Jews by way of heredity. Those who practice Judaism are Jewish by choice. Many people have a difficult time understanding that.

          I am Jewish, yet I do not practice the Jewish faith. My children’s religion is Christianity, yet they are Jewish.. They are Jewish, because I am. I am Jewish because my parents were Jewish. My father was Jewish (both ethnically and religiously). His mother was Jewish. His dad was not. He practiced Judaism, had a bar miztvah and was buried in a Jewish ceremony. He was ethnically Jewish because his mom was Jewish.

          I know it can be difficult to understand, but that does not make it untrue.

        • Allan Richardson

          Additionally, although Jews have ALLOWED conversion, they have seldom PROSELYTIZED for it (possibly to some extent in the first century, according to some New Testament accusations), but they also discouraged intermarriage without conversion of the Gentile partner. Therefore, if it were possible to get the total data set, it would probably show the majority of conversions involving intermarriage, as opposed to personal choice (e.g. Sammy Davis Jr.), and even single Gentiles who converted were more likely thereafter to marry Jews. So being Jewish IS both genetic and cultural. An earlier poster mentioned the Conversos, whose ancestors were Jews caught in Spain in 1492 when Ferdinand and Isabella overthrew the Moors (then sent Columbus looking for more potential Catholic converts). The ones who convinced the Inquisition they really had become Catholic survived to leave descendants, but many of them kept the “family secret” of their Jewish ancestry, whether or not they secretly practiced Judaism (while outwardly being Catholics) down the generations to today. But even if they did not preserve the family secret, their DNA did.

    • omegaman

      Finally someone who has gotten it right…

      • Allan Rchardson

        And in addition, “conversion” in ancient times was not simply accepting a catechism (Judaism has one very specific creed, the Shema, but many more beliefs simply come from reading the Torah and hearing other Jews, specifically but not entirely the rabbis), it was membership in a COMMUNITY, as described in the book of Ruth (“Your people will become my people, and your God will become my God,” said the reputed great-grandmother of King David). The Northern Israelite community was broken up by the Assyrians about a century before the Babylonian conquest and exile, by scrambling the populations of various Assyrian-conquered nations, so that northern Israel was settled by everyone from Hittites to Persians to Arabs (with a few Israelites left to teach the newcomers how to grow the crops in their new land). The incoming people adopted a mixed form of Yahweh worship, which is why the Jews (southern Israelites, or Judahites) considered their descendants two centuries later, the Samaritans, inferior “halfbreeds” both genetically and theologically, and why Jesus made the ethical hero in his famous parable a Samaritan. Why did the Judahite community not break up in exile? Because the leaders and a good proportion of the people moved to Babylon as a group, and lived mostly apart from Babylonians, used the Temple “downtime” to edit the Torah into a single definitive document, and kept from intermarrying with Babylonians unless they converted, until they were “rescued” by the Persian king who conquered Babylon.

        Since the Jewish community since 135AD has been dispersed, there have obviously been many examples of Gentiles converting (i.e. joining the way of life and the community) and of Jews leaving their community in different ways. Converts thus added their DNA to the Jewish gene pool, while Jews who left the community contributed “Jewish” DNA (which MAY have come from an earlier generation of converts!) to the surrounding Gentile community. In modern times “outgoing” Jews are more likely to continue CALLING themselves Jews by ethnicity, openly, regardless of their new religion or philosophy, since religious and cultural freedom IN GENERAL is more valued in most advanced countries today. So ANYONE might be a carrier of Tay-Sachs, for example, but it is more FREQUENTLY found in the groups mentioned.

        • kidimi

          It was the Talmud, not the Torah, that was compiled from oral teachings and edited into a long conversation — “dialogue” spoken centuries apart — by the rabbis of 12th century Babylonia.

    • Santiago Matamoros

      “Jewishness” is defined either genetically, religiously, or in terms of citizenship.

    • yo hal

      I am seeing here a lot of people not familiar with the facts so I will strive here to straight them out.
      Judisam is a religion tied to a particular nation, according to judisam (actually the only religion in the world that I know that has this rule) only people from the jewish etnicty are required to observe the entire religion, while all other people are required only to observe 7 basic commands which are basic humanity (don’t steal, don’t kill, etc.) [So if u r non jewish and looking for a suitable religion this might be the best option]
      The jewish etnicy is based on the mother not on the father, and there is no way for someone born jewish to opt out, no way! However it is possible to convert to judism, but it is not an easy process, as the jewish law is to try to refuse conversion (especially as one can keep the 7 commands) as keeping the entire religion might not be the easiest thing an there is no way to back out once converted! And if she is a woman any children born after the marriage are jews with no way out.

      (Now take in mind that besides that a convert must be 100% confident that he want it, there is almost no reason to say that people in the ashkanazy region converted to judisam on a mass scale, as the jews suffered there more than ever, and in fact there are tehories claiming this to be the cause of the gene issiue.)

      Now to the point while it is true that judism is not strictly an etnicy it is the closest to it (and in fact in any etnicy there are people intermingling), but here we do not speak about judisam as a religion but instead speaking of the ashkanazy jewish etnicy, and there is no way to convert to being a descended of ashkanazy jews

  • Hiai

    I am fortunate in that my mother is a brilliant researcher with a particular interest in genealogy and lots of spare time on her hands in recent years. Consequently, I have a very good grasp on most of my genealogical heritage, back to about 6 generations on many family branches. Thanks to the record-keeping of various European noble families, we have of course been able to follow those particular lines farther back than others. However, few modern Americans have the advantage of belonging to groups that kept good lineal records as well as, say, various Hebrew or European families did. I think a good portion of the genetic research being done today has been compartmentalized to various sub-groups simply because of the fact that they are the groups that have kept good records.
    In other words, it’s much easier to isolate certain genetic tendencies in sub-groups that are very well defined through assiduous records by their ancestors than it is to identify POSSIBLE variants from those with a less closely defined heritage.
    Therefore, it is understandable that researchers must start with smaller subgroups and what they know before extrapolating their results to larger, less well-defined groups, especially “the poopulation at large”, as it were.
    What we are seeing here is the scientific process of building a database, a massive undertaking that we are still in the early stages of developing. To look at a snapshot of the progress made so far and make judgments based upon it would be a mistake.
    I think that as time wears on and more data is gathered, we will begin to see so-called “rare” mutations are far more commonplace than originally thought, and that the implications of certain genetic characteristics ascribed to genetic sub-groups will not only help us understand the human genome better, but will also have historical implications to help us understand group migrations, etc.
    For example, what if it were found that two different isolated sub-groups shared a certain “rare mutation”, but were vastly separated geographically? Speculate that a genetic marker formerly ascribed exclusively to native Alaskan Inuit tribes were also found to be highly prevalent in Australian aborigines, but nowhere else in the general human population? What sort of effect would that have on current migration theories?
    While such revelations are relegated to mere speculation at present, I anticipate the advancement of these studies will be “the new frontier” in scientific progress as we reach “critical mass” in the data-gathering process. Right now, we can only wait and watch, and try not to judge prematurely.

  • paperdragon

    And what type of mutations might these be?

  • Dina

    A rudimentary knowledge of genetics says that most devestating diseases are recessive genes in the population. It’s takes two of these genes to have the disease in most cases. Therefore when there is only one of these genes and marriage is in diverse groupings the disease is rare. Where for reasons of isolation or religion, people intermarry to a greater degree than the general population,these genes will be expressed because both the man have the gene that was hidden in their genome. I think these genes were always present as you are seeing now, but not expressed as the disease. Nothing new!

  • Thermal Rider

    And of course, we all know that everyone who knows their ancestry also did genetic tests on each of those ancestors to ensure that the father-of-record is the actual father. 😉

    Somewhere between 10 and 20 percent of births in the modern US have a genetic father different than the father-of-record. (Several studies have confirmed this, as far back as the 1950s.) I see no reason to believe that the percentage in the past was zero, or even close to it. That means that there is/was far more mixing than it is polite in current society to admit, and that even those who think they know their ancestry probably don’t know it as well as they think.

    • Danielle

      Especially in cases where persecution would have followed if the true birth father was known. For example, in cases where cross-culture intermingling would have been followed by the family disgrace.

    • Allan Rchardson

      So maybe 10 to 20 percent of Americans have “milkman” or “postman” DNA?

  • Screening should be broader for all of these factors. One reason some hereditary disorders are not tested for, particularly in preconception or early pregnancy, are due to stereotypes that have stuck around even though humans are much more mobile and intermingling and combining different ethnicities and different genetic mutations. My son and I have G6PD deficiency. I am the first person, in our family to be diagnosed and I was diagnosed at 34, after nearly dying for side effects of contraindicated medications and medical trauma. Most doctors still think that it’s extremely rare (it’s not that rare, but it is under-identified) and that it occurs in darker skinned males of African or Mediterranean origin and it is widely believed that because it is x-linked that women rarely have it because it would require and x from each parent. G6PD Deficiency does not always behave as typical x-linked recessive, and women who are considered “carriers” are more accurately described as “partially deficient”, and many may never have a symptom, during times of medical trauma, or during childbirth, they may have symptoms that are hard to resolve without the information about G6PD deficiency status. The most common, and least expensive, test for G6PD Deficiency does not detect these partially deficient individuals, so many women who are tested (often after a son or other family member is diagnosed) think they are not G6PD Deficient and they assume they are not a carrier or partially deficient based on incomplete information. One reason mine went undetected, and untested even in pre-conception and early gestational screening is because I’m female and pale and I burn within 10 minutes of being outside. Even though my ancestral origins were not known (I’m adopted and had zero family medical history or information on ethnicity), doctors and specialists and even laypeople made assumptions. Assumptions kill. I’m fortunate to have survived, and hopefully we have adjusted my son’s exposure to contraindicated substances so he doesn’t go through the hell that I have been through in my life because we didn’t have one little piece of information… For more information, please check out the very informative G6PDdeficiency.org site (for the record my mutations did not show up in my 23andme.com testing, though most common ones are tested for).

  • Mike

    I’m curious why the report did not distinguish between harmful and beneficial mutations.

  • Joe Average

    Both my kids had sickle cell trait, and we are white caucasions. There MIGHT be some mellungeon in my past family DNA, but don’t know. Not a lot of accurate family records prior to the civil war in rural backwoods areas. Imagine the surprise when we got the report from the health department after my son was born. Had no idea….but now it makes sense that my family has problems with blood clots, strokes, blood pressure and diabetes.

    • Jose A. Solis

      got any neighbors who are male mellungeon??

  • stu

    This article really says nothing.

    • Eileen

      The comments are interesting, though.

  • Darween

    Mutations never produce anything better _ always something worse as every comment here reinforces. So tell me, how did we mutate from something out of the sea and climb up on land and then come out of the trees and then go to the moon?

    • g.r.r.

      Exactly right. However, this is not simple mutation, but DNA transfer amongst individuals and species. IOW, I expect that we will animals like Dogs, and cats get smarter then they were 10K years ago.

      • rixt

        Dogs (canis lupus familiaris), cats (felis domesticus or felis catus) and horses (equus ferus caballus) are a few of the species that that are not only smarter, but in many cases (barring severe inbreeding) perhaps physically superior to their ancestors due to their association with homo sapiens sapiens. We have brought them along with us as we have improved our nutrition, living conditions and medical technology. I’m reminded of David Brin’s “Uplift War” series of novels. Dogs, especially, are a far more versatile species due to our genetic manipulation. Some geneticists have described the canid genome as “slippery”, resulting in the great phenotypic diversity we now see.

    • Capt Nemo

      Some mutations are incredibly useful, some cause disease. Your blanket statement just shows your lack of understanding of genetics AND the reality of evolution.

      The ccr5-Δ32 mutation confers HIV-1 resistance to those with a double copy of the allele (homozygous). The mutation also confers resistance to plague and smallpox while increasing susceptibility to west nile virus.

      The mutation for sickle cell trait seems to provide resistance to malaria for a population that came up in an environment rife with it (Africa).

      I could go on, instead I suggest you read a few books about genetics, mutation, and evolution.

    • Allan Rchardson

      Mutations SELDOM produce anything better, but the occasional “lottery winners” are more likely to survive than non-mutants, in conditions of wild nature. And some mutations produce neutral effects which may in later generations become “better” or “worse” in changing environments; even TEMPORARILY changed environments. I remember reading that African Americans have a higher rate of hypertension than “white” Americans (of course, the rate for ALL Americans is TOO high), but have not seen any information on whether contemporary Africans have that high a rate. If not, this MAY be a result of the unsanitary conditions on slave ships, favoring a mutation to retain fluid longer, reducing the transmission of diseases through dysentery for the weeks required to reach their destination, so that descendants of slaves who SURVIVED those terrible conditions MAY have inherited a greater tendency to retain fluids, which MAY lead to higher blood pressure. Whether there is any data on this subject, I do not know, but it may be a reasonable possibility. Of course, separating heredity from environment, diet, etc. is very difficult. In the meantime, EVERYONE keep checking your blood pressure and your cholesterol, but ESPECIALLY African Americans, because for SOME reason they are at greater risk.

  • g.r.r.

    The fact that mutations like these are showing up, would indicate that these are viral in nature. IOW, they have the ability to spread.

    • Dana

      No. A viral mutation is a mutation in a virus. We’re talking about human cells here.

      Human mutations spread because human beings reproduce sexually–that is, we have to share genetic material with a partner in order to make a baby. That’s all. Nothing complicated.

  • LKP

    Once the facts are in, which will take years of tedious research without biases, everyone will be shocked to know that mutations are a common occurrence regardless of region or ethnicity. If what formed life exist everywhere, then what causes mutations exist everywhere, perhaps to varying degrees but it exist. We speak of ethnicity, sub-groups, and regions, but what happens when we just don’t fit into one of these categories. Then and only then are we a true mutation and not victims of our DNA. Does it matter that I do not share the medical history of my family? My medical problems are unique to me as I myself, so is it I am adopted? How could this matter as I am still from the same sub-group? Aren’t all of our mutations the same in this sub-group and this region? This research gives rise to more questions to be answered then it answers more questions.

  • Eleri Hamilton

    We’ve seen this in action in my family- my daughter’s newborn screening showed the Hemeglobin E trait- normally found in Asian & Mediteranian populations. But upon further digging, we found it had been passed on through my great grandmother, who’s family is almost 100% Polish. Interestingly enough, her family had come from a region of Poland where the beta Thalasemia trait is common, and no one in the family inherited that. Which is good, because the two traits together are almost invariably lethal.

  • people are all mixed up!

  • me

    Useless story with no meat. People came to this story wanting to see numbers and the mutations theyre for. Pointless story intended to draw readers who get to read. . .nothing.

  • Eddy

    “This second possibility has far-reaching implications. Couples planning to have children are often screened for genetic mutations that could cause inherited diseases in their children. Typically, they are screened for specific mutations thought to be most common in their ancestral group. Our data shows that many mutations can occur in people outside those ancestral groups. Add to that the fact that many people might not know all the details of their ancestry and ***the argument for broader screening becomes stronger.***


  • Helen

    Can anyone clarify the pemphigous vulgaris skin disease?

    • springh20

      I am not sure what pemphigous vulgaris has to do with this topic but this disease simply stated is an immune disorder, you could say the person is allergic to there own skin. There are two types, bullous pemphigoid and pemphigus vulgaris. The eosinophils are usually elevated. The person with this should be nursed as if they are burn patients and the MD should be consulted regarding appropriate and adequate pain relief. The skin sloughs off, in it’s worst form it could be compared to someone who has had a severe 3’rd degree burn all over their entire body. The medical team should keep in mind the unique needs of the patient including avoiding infection, realizing fluids are lost and using sterile gloves with extremely careful turning and repositioning, The skin can come off with the sheets on a bed. It takes several people to change sheets because the usual way sheets are changed with a patient is to roll the person to one side and the other while the sheets are changed on each side. The patient can be lifted carefully and then the sheets changed without the patient having any contact with the sheets. There is no cure and this has a high fatality rate. As in any other disease or disorder the word “usually” should not be misconstrued as “all”, this usually happens more in men, more in the elderly. The cause is unknown. The person will be treated with corticosteroids and antibiotics because immune disorders generally are treated with corticosteroids with suppresses the immune system and antibiotics may inhibit the likelihood of a secondary infection due to the loss of skin, the first and largest barrier we have against the introduction of infection to our body. Please contact your physician or emergency department with any emergent or any other concerns. Although at times helpful, the internet should not be your only source of information and some information could be wrong or may not apply with any self diagnoses you may decide is correct but in fact may be wrong, you do not have the medical knowledge as a person has who IS an MD, or arsenal of testing equipment necessary to make a correct diagnosis.

  • imakosherbrattwurst


  • A.B.Prosper

    There are a lot more mixed race people out there too. Census says its the fastest growing catagory. Its seem logical that mutattions could carry over

  • Hank Missenheim_Jr

    I find it hard to take any scientific article serious when it’s written anonymously.

    • bobe

      Anonymous wrote a pile of good books, his brother worked for the government Unnamed Source. his son wrote music Anon.

  • mindbird

    Other factors: Genealogies only tell the official story. I recall research from a few years ago that reported the likelihood that 20% of the children in the world are not fathered by the father everyone thinks they have.
    And names don’t reveal everything anyway–see “Kingsblood Royal,” by Sinclair Lewis.

    • Eileen

      With regard to the paternity statistic, I think it is that 20% of paternity tests indicate parenthood by someone other than the presumed father. I think the people being tested pretty much knew or had a deep suspicion already. So for the rest of us, the 20% statistic isn’t accurate.

  • Patrick

    Sigh. It does not surprise me “rare mutations” are occurring more frequently. Come on, humans are meant to procreate. Of course, mutations are going to get passed on. What else would we expect? Our species is a hit or miss like playing Russian roulette. It’s not our fault our ancestors procreated with just about everybody over the centuries. What’s next? We start breeding in laboratories to weed out our imperfections? That would be inhumane and arrogant. We are born with the hand we are dealt with.

  • Janet

    Usher Syndrome is another interesting genetic condition that occurs in French-Acadians.

    “Type I has been found to be more common in people of Ashkenazi Jewish ancestry (central and eastern European) and in the French-Acadian populations (Louisiana).”

    Another reason that certain genetic mutations are found in south Louisiana is that many Jewish orphans were sent on trains and adopted into Louisiana farm families. http://books.google.com/books?id=FMUlOcn61q4C&lpg=PA174&ots=XcEpB2Ts9U&dq=jewish%20orphan%20trains%20louisiana&pg=PA174#v=onepage&q=jewish%20orphan%20trains%20louisiana&f=false

  • JFS

    15+ years ago, geneticists used to say that, as a rule of thumb, “nonpaternity” in family trees generally turns up at over 5%, regardless of the stratum of society or location.

    More specifically, even ignoring the rich history (and worldwide dispersal) of Spanish crypto-Jews (dating from the time of the inquisition), there have certainly been plenty of smooth, charming, “city-slicker” traveling salesmen of Jewish heritage traveling the US and canadian hinterlands from the late 1800’s well into the 20th century. Color me unsurprised to find their genes popping up widely.

    • sellgen

      Never forget that rape has always been common, as has been incest from relatives and step-relatives, continuing today in some communities. Sexual experimentation between young people was probably more widespread than we might think. (Of course, the old “farmer’s daughter” jokes were told for a reason; and your point about slick strangers coming to quiet communities was equally true.) That before public aid and modern morals, illegitimate births were generally kept hidden and many times babies born to unmarried girls/women were claimed as children by the girls’ parents or close relatives. Or, the girls were hastily married off to any available male. That there was marriage/cohabitation between first cousins and other too-close kin, sometimes for generations, in isolated communities without available partners for teens/adults of marriageable age and before the dangers of too-close intermarriage was understood. That in royal courts and noble families, extra-marital bed hopping was common.

  • I gather the purpose of this article is to troll up business for 23andMe. It has become increasingly clear over the years that genes in and of themselves predict very little – epigenetic changes are much more impactful. You may have a genetic mutation, but unless it is switched on by negative life circumstances (high stress, extreme poverty, anger, environment, poor diet, lack of support) it is most likely that it will not cause any illness.

    • Patricia

      Does it mean that if a person has ‘defective’ genes they will get a disease? Can they prevent the disease from showing up? Is there ever a case where a couple gets genetic screening and are told that it’s too dangerous for them to have children?

      • ScottH

        Patricia, In almost all cases genetics is just one factor involved in why someone gets a disease. There are a few exceptions to that, but your environment, lifestyle and family history are also a factors. As for your second question knowing you are at risk for a certain condition can help you and your doctor take steps to prevent it. And your final questions is really much broader than one related to genetics alone. There are any number of tests done routinely during pregnancy – ultrasounds for fetal nuchal translucency, maternal serum (blood) tests that look for abnormalities, alpha-fetoprotein screening, and amniocentesis, for instance. Each one of them has the potential to find serious issues. In the case of genetic testing, prospective parents can take the test before getting pregnant to learn about their carrier status for certain conditions that could be passed onto their child.

  • Sharon Agte

    The Melungons have a diverse history. A writer, Name might have been Brent Kennedy, wrote a book on his search of Melungon family history. He found his answer in Turkey; one group of people there had the extra finger that he had removed at birth. Also, familial auto-immune problems. The Turks were slaves or seamen on Spanish boats that were swept ashore on Carolina coast.


    I like to eat salads, they are crunchy and delicious. Shalom.

  • a p garcia

    As a person with a degree in Biology and who had taken his fair share of Genetics, this is the result of interbreeding!

  • Arleeda

    23&me revealed that my husband had an East Asian Great-grandfather. His Y chromosome is East Asian, and he has 12% East Asian genes. All we had known was that the grandfather had shown up in New Orleans as a teenager and never mentioned his ancestry as other than “Meditteranean.”

    • cedric

      He may have been Native American. Around New Orleans there was significant “passing” of Native people who blended into Cajun and mixed race populations.

  • tyler

    What do you mean, “ancestral group”? As we all know, there is no such thing as “race.” Therefore, “ancestral group” must be something else, right?

  • Duncan

    Typically, mutation testing involves confirming the underlying cause of symptoms (like testing for a mutation related to a blood clotting disorder in someone with clotting issues) or for predicting the relative odds of conceiving a child with a genetic disorder. In this scenario, requesting information on a patient’s lineage allows the person presenting the results to the patient to be more accurate in predicting the percent chance the baby will have this disorder. If a person stated their heritage was northern European, the results of a genetic test on the potential parent would change the relative risk of having an afflicted offspring based on how common a mutation is within and outside of the ethnic group. For example, proper explanation of the results would include something like the percentage of having affected offspring is now 1 in 175,000 as compared to 1 in a 100,000 in a patient without ancestral information. While the author’s (and the company behind it) research will help make these statistics more accurate, genetic testing results shouldn’t be presented as “your test for this mutation was negative, so therefore, you have no chance of having a child with (whatever) genetic disorder”. The blog entry/article implies a patient would be told their offspring would have a zero chance of having a genetic disorder based upon the parent’s ethnicity, whereas in the real world, the results should always be presented as a percentage of relative risk.

  • Sparta of Phoenix AZ

    Ok….So the author assumes that they are starting to see mutations in ethnic groups they haven’t seen before and assumes they must have always been there or missed somehow? Perhaps the author has been living under a rock and misses the fact that many people are now “breeding” outside of their own ethnic group or have lost touch with their own ethnic group…People, if your going to “breed” you should take such things as prevalence of certain diseases etc. into account before you just breed…He or she make “look” good (for example many African American men look healthy but the average AA male also dies about 10 years younger than other groups from disease alone) but do know that a person’s genetic makeup is a bit more important than his or her “style”, bicep size or whatever…

    • alicia

      The reason being is because black males do not frequent the doctor as much as other groups…not because they have some sort of gene in their dna. Your statement is totally inaccurate..it has been shown that economic circumstances plays a big role. Poor black males live longer than poor white males and vice versa.

  • fred carlson

    Congrats to all, well almost all, for a most informative discussion on ancestry.
    One thread that seems to have been missed is the migrations before the “biblical” era. DNA studies have done a lot of parsing of differences in DNA between Asians and Native Americans, and euro genetic groups. One contributor mentioned the Merryweather thesis of celtic presence in pre Columbus north America. Recent findings of “norse” presence well before Columbus along the north east american coast are quite convincing. Add to this the extensive copper mining in upper Michigan that points to bronze age mining, suggests genetic mixing way earlier than the european invasion after 1492.
    My point is that while slight, ancient travelers likely did likely “drop” some DNA just about everywhere , sometimes good, sometimes a bad disease too.

  • Lee Hall

    I have learned a lot more from the comments section than from this truncated article.

  • lee vitello

    Early Italian immigrants also inter-married. Cousins inter-marrying was predominate and a family I knew lost 5 children to cancer because of this.