Genetic Genealogy
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  • Adds DNA to genealogist's tool kit.
  • Only 10 years old
  • Milestones:
    • 2000 – Family Tree DNA – the beginning
    • 2001 – Sorenson Molecular Genealogy Foundation (SMGF)
    • 2003 – YSearch public DNA database (FTDNA)
    • 2004 – mitoSearch public mtDNA database (FTDNA)
    • 2004 – 1st International Conference on Genetic Genealogy
    • 2005 – Genographic Project
    • 2005 – ISOGG / JOGG
    • 2007 – full genome sequenced (Watson/Venter)
    • 2007 – 23andMe – Health & Genealogy
    • 2007 – FTDNA "Walk through the Y"
    • 2009 – autosomal and X chromosome DNA
  • An essential component of any surname project.
Genetic Genealogy is barely 10 years old. It is the practice of combining DNA evidence with traditional genealogical research.
– The first known use of DNA by a genealogist was in 1999 and the next year witnessed the first company dedicated to making DNA available to genealogy researchers.
– Anthropologists are now using DNA and The Genographic Project by National Geographic and IBM is using it to study the migratory history of humans.
– In 2005 a group of genealogists founded the International Society of Genetic Genealogists (ISOGG) and the Journal of Genetic Genealogy (JOGG).
– In 2007 23andMe began offering DTC genetic tests to the public and Family Tree DNA began a project called "Walk Through the Y" to discover more recent SNPs which identify smaller branches or subclades of the human family tree. The recent addition of autosomal and X chromosome DNA to the genetic genealogist's toolkit allows us to cast an even wider net, capturing cousins as well as ancestors.
As the use of DNA becomes more commonplace in genealogical research, it will become more important for a serious surname study to include it.
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Types of DNA genealogists use:

  1. Y-DNA – paternal lineage / surname projects (recent ancestry).
  2. mtDNA – maternal lineage / regional projects (distant ancestry)
  3. autosomal DNA – parents / cousins
  4. X chromosome – "semi-autosomal" – parents / cousins
Initially, only two types of DNA were practical for genealogical research – the Y chromosome and mitochondrial DNA. These gave information on direct male (Y-DNA) or female (mtDNA) lines. Though limited to direct paternal or maternal lines, these technologies were useful for finding distant ancestors and Y-DNA was also useful for finding recent ancestors.

Recent advances now let genealogists use autosomal DNA and the X chromosome to find not just ancestors, but recent relatives, possibly as distant as 5th cousins.

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- Autosomal and X chromosome DNA – helpful for locating a biological parent or cousin (up to 5th cousin). They can also provide information on disease risks and drug reactions.

Y-DNA – still the best vehicle for researching direct ancestral lines, both recent and ancient.

mtDNA – can help solve recent ancestry questions but is best suited for research into more distant ancestry and for regional projects.

Autosomal and X chromosome DNA help genealogists find close relatives e.g. parents, siblings and cousins. The X chromosome also provides limited usefulness in researching earlier ancestries.
Y-DNA is still the most powerful tool for researching family lines. It is more discriminating than autosomal DNA in that it doesn't get mixed with other lines and it can be used for recent as well as deep ancestral studies. Its selective nature of tracing only the paternal line can be a handicap, but this can be remedied by testing someone in the paternal line of the family of interest. Even if you're unable to recruit someone from the other line to test, you may be able to find someone who has already tested from the family of interest in the ever growing databases of DNA test data.

mtDNA mutates too slowly to be useful for recent ancestry, but it can still provide valuable clues by comparing family histories with other researchers from the same mtDNA haplogroup.

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This is an example of a human cell. There are often thousands of mitochondria in a cell, but only one copy of the nuclear DNA.  This is why DNA testing on ancient human remains are often restricted to mtDNA because the Y-DNA is either non-existent or the amount available is too small to be of use.
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There are twenty-three pair of chromosomes in the cell nucleus arranged according to their relative size. The largest amount of information is in chromosome 1, while the smallest is in the mitochondrial DNA.
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Approximately 3,100,000,000 base pairs coding 25,000 to 30,000 genes.
http://en.wikipedia.com/wiki/Chromosome
There are approximately 3.1 billion base pairs (3.1 Gb) in the chromosomes which code to approximately 20,000 to 30,000 genes. The first 22 pair are the autosomes.  The 23rd pair are the sex chromosomes.

The DNA of the mustard plant codes almost the same number of genes but human DNA is more complex and the genes interact with each other rather than having only one function.

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- SNP ("snip")
  • define groups of people.
  • Single-Nucleotide Polymorphism.
  • Source of differences in people.
  • Occur once in human history (positive id of group).
  • Define "haplogroups".


STR
  • provide family "signatures".
  • Short Tandem Repeat ("alleles" – # of repeats).
  • Occur randomly (about 1:500 to 1:200 generations).
  • Define family units – "haplotypes".
An error at conception in transmission of a base pair is called a SNP (Single Nucleotide Polymorphism). The evidence indicates a SNP mutation occurs very rarely, so a SNP error or mutation can be used to identify a subset of the human family. A chart of those SNP mutations is called a phylogenetic tree.

Some portions of the chromosome are repeated – these are called Short Tandem Repeats. The number of times they repeat is called an allele value. Occasionally, about once in 200 to 500 generations, the number of alleles passed to a child is different. Since this occurs much more often than a SNP, it can be used to discriminate between recent branches of a family unit. Unlike the SNP, the STR can change more than once and can even return to its original value. For this reason, STRs are not useful as permanent markers for a family branch.

A haplotype is your individual DNA signature. It will be very similar to or exactly like your siblings and recent ancestors. It can be compared to an address or phone number – usually shared by family members.

A haplogroup is a branch of the human family tree and encompasses perhaps millions of people. It is like a zip code or telephone area code – everyone who lives in a certain region has the same zip code except, in the case of the DNA haplogroup, everyone in the group are related to each other either recently or perhaps even within thousands of years.

A haplogroup is defined by a SNP – Single Nucleotide Polymorphism.
Genetic genealogy research (e.g. "Walk through the Y" by FTDNA) has focused on finding more recent SNPs. If a SNP can be found within a few hundred or even a thousand years, it may be possible to identify the person who experienced it.

Anyone with a confirmed SNP is related to everyone else with that SNP.

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common ancestor
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descendants
(cousins)
In this descendant chart, we see a parent or parents with children.  It can represent three different types of DNA studies:
  1. It can represent a Y-STR (surname) study – where the common ancestor is a male and all descendants are males.
  2. It can represent an mtDNA study – where the common ancestor is a female and all descendants are females.
  3. It can also represent an autosomal or X chromosome study, which is a complete family unit, where the common ancestor is a pair of parents and the descendants include all the children and their cousins, both male and female.
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This pedigree tree shows a son and daughter and their ancestors. The direct male line carries the Y chromosome and the direct female line carries the mtDNA.

Note that the son has inherited both Y-DNA from his father and mtDNA from his mother while the daughter inherits only mtDNA from her mother.

An autosomal or X chromosome study can help find the ancestors in this pedigree tree as well as the cousins related to them.

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Both men and women can participate in mtDNA studies as both children receive it from their mothers. Only men can participate in Y-DNA studies as only males have Y-DNA.
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Autosomal DNA
-  Autosomal DNA:
. . . allows the genealogist to identify close relatives.

  • Siblings, Parents, Grandparents, Cousins.
  • Possibly as distant as 4th Grandparents and Fifth Cousins.
  • Geographic or ethnic ancestry.


Autosomal DNA:

 – Comes from both parents -- i.e. from all ancestors.

 – Can be used to help identify close relatives.

 – Can also be used to show ancient geographic or ethnic ancestry.

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- Autosomal DNA shared with relatives decreases with each generation.

relationship to another person
(# of generations to common ancestor)
average shared DNA expected
(non-inbred population)
parent or sibling (1) ~ 50 %
uncle / aunt / half-sibling / grandparents ~ 25 %
cousin / half-uncle/aunt (2) ~ 12.5 %
1st cousin once removed ~ 6.25 %
2nd cousin / 1st cousin twice removed ~ 3.125 %
2nd cousin - once removed ~ 1.56 %
3rd cousin (4) ~ 0.78 %
4th cousin (5) ~ 0.20 %
5th cousin (6) ~ 0.05 %
Autosomal DNA is the 22 pairs of non-sex chromosomes in the nucleus. An autosomal study can be difficult as the amount of DNA shared by relatives gets smaller as their relation gets more distant.

At conception, each parent contributes 1/2 of each pair of autosomes the child receives. The autosome each parent contributes is a mixture or recombination of the autosomes received from their parents, the child's grandparents.

A popular use for autosomal DNA is to determine ethnic heritage, though the accuracy of these predictions is questioned by some scientists.

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Here is a possible 2nd to 4th cousin match using FTDNA’s Family Finder Chromosome Browser.
http://familytreedna.com/landing/family-finder.aspx

The Family Finder test analyzes the 22 chromosomes of the autosomal DNA using Axiom Array Plates which resolve almost 570,000 genetic markers. It can detect shared DNA for most third cousins, but some fourth and fifth cousins will not show a match. For this reason, it is recommended to test the oldest generations in a family to maximize the chances of finding matches with more distant cousins.

Definitions:
Centimorgan (cM) – A centimorgan is a unit used to measure genetic linkage. One centimorgan equals a one percent chance that a marker on a chromosome will become separated from a second marker on the same chromosome due to crossing over in a single generation. It translates to approximately one million base pairs of DNA sequence in the human genome.
GigaBase (Gb) – One million base pairs.

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Here is an example of brothers who share approximately 52% of their DNA and 2nd cousins who share approximately 4%. (Shared by Dirk Schweitzer, PhD.)
Note that the 23andMe data includes the X and Y sex chromosomes.
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Here are two examples of "Ancestry Painting" from 23andMe – and example of using autosomal DNA to identify ethnic or regional ancestry.  This feature gives an approximation of ancestral origins as revealed by the autosomes.  The colors on the autosomes correlate to the legend at the bottom right showing geographical areas represented by those segments of the DNA.

Each autosome shown on the chart is actually a pair of chromosomes and the colors are divided to show what is located on each chromosome.

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Two more examples of "Ancestry Painting" from 23andMe.
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Here is an example summary Health Information page from 23andMe which can be purchased along with their genealogy test. They currently provide information on 82 disease risks, 38 traits, 24 carrier status and 17 drug response categories.
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X Chromosome DNA
- X Chromosome DNA

  • Can help identify close relatives.
  • Similar to autosomal DNA – it undergoes recombination.
  • Different from autosomes in that the amount of recombination varies greatly.
X Chromosome DNA:

 – Is similar to autosomal DNA in that it undergoes recombination and can be used to show possible relationships to close relatives, but the amount of recombination varies, making statistical analyses difficult.

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A father passes a copy of his X chromosome to his daughters, but not to his sons. Since he has only one X chromosome, it does not go through recombination.
(image courtesy Sorenson Molecular Genealogy Foundation)
The use of the X chromosome for genealogical research is relatively new. Men have one X chromosome while women have two. A father passes his X chromosome virtually unchanged to his daughter and it can be exactly the same as his maternal grandfather, exactly the same as his maternal grandmother, or a mixture of the two.

A woman passes a mixture of her X chromosomes to her children, both sons and daughters. The mixture can range from none from one parent and 100% from the other to any ratio in between. A mixture of 50% from each parent (the child's maternal grandparents) seldom happens. These characteristics complicate estimates about ancestry using the X chromosome since ancestors can be either under or over-represented in it.

This slide from Sorenson Molecular Genealogy Foundation shows how the X chromosome is passed from a parent to a child.
http://www.smgf.org/education/animations/x_chromosome.jspx

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This pedigree fan chart shows the approximate amount of X chromosome a daughter receives from her ancestors.  The percentages shown (50% from each parent) rarely occur as it can vary from 100% from one parent and 0% from the other to any other ratio.
http://www.thegeneticgenealogist.com/2009/01/12/more-X chromosome-charts/
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This chart shows the approximate amount of X chromosome a son receives from his ancestors.  He receives it from his mother.
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mitochondrial DNA
- Mitochondrial DNA

  • Passed from a mother to her children.
  • Traces the maternal line.
  • Does not experience recombination.
  • A "high resolution" match (exact match on HVR1 & HVR2) implies a 50% chance of sharing a common ancestor within the last 28 generations – or about 700 years ago.

http://www.familytreedna.com/faq/answers/10.aspx

Mitochondrial DNA

 – Everyone has it, but only mothers pass it to the next generation of children.

 – Traces the maternal line.

 – Unlike autosomal DNA, it does not experience recombination, making it an accurate indicator of the maternal line.

 – It mutates too slowly to be used for recent genealogy – except that it can provide clues which can help solve recent ancestry questions.

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One of the challenges of using mtDNA is that the surname of each maternal ancestor changes with every generation, but that can also be used to advantage. When two people share the same mtDNA haplogroup, they share a maternal ancestor – i.e. their maternal lines intersect somewhere. If they each have a maternal ancestor with the same maiden name, at the same period of time and in the same place, it's a good sign the two women have the same mother – i.e. they could be sisters.

I recently received a note from another researcher who wrote that he and I were shown as possible relatives on FTDNA's Family Finder. He noticed we have the SAPP surname in common, saw that as a clue, and wrote me.

Mary SAPP is my 3rd g-grandmother in my direct maternal line, but her parents are unknown. My mtDNA haplogroup is H1m, so I wrote the other researcher and he said his Sapp ancestor was also in his maternal line and he was also H1m.

This was exciting news. It means the H1m mtDNA line has two women with the same surname. Now I needed to see if his maternal ancestor lived in the same place and in the same time frame as mine to see if there is any possibility they are related or if it is just a coincidence.

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Sure enough, this man's ancestor is Eliza Sapp, born about 1800 in Burke county, Georgia and my ancestor is Mary Sapp, born about 1795 also in Burke county, Georgia. This was exciting news as it looked like I had finally found the evidence I needed for Mary's parents. Unfortunately, the descendants of Eliza Sapp don't know who her parents are either, so we're still looking.

There are probably millions of people who belong to mtDNA haplogroup H1m, but the odds of us both having the same haplogroup with a direct maternal ancestor having the same maiden name, from the same area and about the same time makes the probability very high that his ancestor and mine are sisters. Every woman (maternally) descended from Mary's mother, grandmother, great grandmother, and so on, will also be H1m. That presents an alternate but remote possibility that Eliza and Mary are not sisters but aunt and niece or first cousins and both of their mothers married Sapp men.

Even though the mtDNA didn't solve our genealogical brick wall, both of us now know we have found a related line that might provide clues we didn't have before.

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Y Chromosome DNA
- Y Chromosome DNA

  • Passed from a father to his sons.
  • Traces the paternal line.
  • Does not experience recombination.
  • A "high resolution" (67-marker) match implies a 50% chance of sharing a common ancestor within the last 3 generations – i.e. father or paternal grandfather or great-grandfather & 90% chance within 5 generations.

http://www.familytreedna.com/genetic-distance-markers.aspx?testtype=67
http://www.familytreedna.com/faq/answers/9.aspx

Y Chromosome DNA:

 – is only carried by males and is passed from father to son.

 – can give a "signature" for the paternal line allowing genealogists to identify related family lines.

 – unlike autosomal DNA, it does not experience recombination which makes it more accurate in tracing a paternal lineage and in identifying related family branches.

 – can be used for deep (ancient) ancestry and for recent ancestry.

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This descendant chart shows the major subdivisions of the human Y-DNA family tree. Each branch or subclade represents a SNP (Single Nucleotide Polymorphism) that occurred at some point in human history. Since SNPs are believed to occur only once, each one becomes a unique identifier for all descendants of the man who experienced it.
(The ages of the SNPs are approximate and may change as the science matures.)

Our Project includes people from three primary haplogroups – I, Q and R. Each of those haplogroups have child haplogroups or subclades. Haplogroup I has 35 subclades and Haplogroup Q has 18. Haplogroup R has more subclades than any other branch, with 79 known at this time and with 58 of those belonging to the R1b subclade. (The reason for this is most likely because research has focused on that haplogroup and future research will surely reveal more SNPs in the others.)

Haplogroup Q appears to be the youngest of the primary Y chromosome haplogroups, originating with the SNP mutation M242 in a man from Haplogroup P who possibly lived in Siberia approximately 15-20 kya. It is most prevalent in populations across North, Central and South America which are referred to as American Indian or native Americans.

http://www.genebase.com/tutorial/item.php?tuId=16
http://www.isogg.org/tree/index.html

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We have one project member in haplogroup I and one in haplogroup Q. All the rest are in haplogroup R1b, which is a subclade of haplogroup R1. The descendants of Jeremiah Cloud of Twiggs county belong to the subclade of R1b identified by a SNP known as L47* known as haplogroup R1b1b2a1a1d1*. (The asterisk means there is no known subclade for our group – L44 is a subclade of L47 but we don't have that SNP and are L44-.) Since the DNA evidence says the Jeremiah group is descended from William the immigrant, everyone in that group would be L47*, but a SNP test from someone in that group is needed to confirm it.

R1b1b2 occurred app. 5,000 to 8,000 years ago.

R1b1b2a1a1(SNP U106) is believed to have occurred about 4,200 years ago. R1b1b2a1a1a (SNP U198) is thought to have occurred 2,000 - 3,000 years ago. SNP L48 occurred shortly after U106, about 2,900 - 3,100 followed shortly after by L47 about 2,700 - 2,900 years ago.
http://en.wikipedia.org/wiki/R1b

This image on the left is the L47* tree from the R1b-U106 research group. It shows some of the surnames to whom we are related within approximately the last 1,500 -2,000 years. (Lines shown from the U106 Project are those that have tested 67 markers and have also tested for SNP L47.  There are surely other families, but none who have joined the project and who have had the requisite tests done.)

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Two important notes about this illustration:

There are eleven Cloud family groups in our project.  Six of them are related to each other and five are distinctly unique family lines. This graphic is illustrating relationships discovered from the DNA data. We have no information for possible matches for the lines shown on the right. The lines in the middle are shown to intersect with the line of "William the immigrant" who was born 1621 in England and came to America in 1682.  (A SNP test by one or more members from the group of William the immigrant would be useful.)

A Y-DNA project traces the paternal line only, so the phrase "not related" means not related (within a genealogical time frame) to any other Cloud line in the project.  People may be related through a maternal line.

The DNA evidence shows that the lines of Joseph Cloud, John Rhinehart, Robert Mercer Cloud and James Cloud are descended from William Cloude's son Robert. It also shows that the descendants of Jeremiah Cloud (1784 Twiggs county) are descended from a subset of the branch of William's son Jeremiah.

The best information we have on the haplogroup for the line of William Cloud born 1780 is an estimate of R1b1b2. Someone from that group needs to have a SNP test performed to refine its haplogroup designation.

The Isom Cloud line is a distinct Cloud family line.

The Joseph Stembridge line is a distinct Cloud family resulting from a surname change in approximately 1880.

The line of Ruben is haplogroup I2b1 which inhabited Northern Europe. Joe Cloud's line is Q1a3a or native American.

The complete chart shown above can be seen athttp://mykindred.com/cloud/dna/results/cdnareport.php

The complementary pedigree chart of the people participating in the project can be seen athttp://mykindred.com/cloud/dna/results/pedchart.php

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- Your Help is Needed:
  • Test one member from each group for SNP.
  • Recruit members into the Cloud DNA Project who are distant cousins so we can triangulate and find where the Y-STR mutations occurred.
  • Locate descendants of other family branches to participate in the project (e.g. the other sons of William the immigrant).
  • Focus research for dead-end lines where the DNA evidence indicates a relationship.
  • If the dead-end line is less than 5 generations back, consider an autosomal test.
At least one member from each group needs to have a SNP test to verify their haplogroup and to find the most recent SNP for that group. (New SNPs may be discovered in the future.)

A SNP test can be ordered from FTDNA as an advanced order. If you have tested with 23andMe, you can use their "browse raw data" feature to locate the SNP and see if you are "minus" (derived) or "plus" (ancestral) (SNP L47 is known as rs34283263 and SNP L44 is known as rs34738655). If you are "plus" you have inherited the original SNP. If you are "minus", you have the mutation.

We also do not have project participants from all the sons of William the immigrant. There are also numerous dead-end Cloud lines which have male paternal descendants who could benefit from joining the DNA project.

These dead-end lines can benefit from the knowledge gained from DNA evidence since it narrows the search field for researchers.
An autosomal test, though not as specific as a Y-DNA test, can help locate ancestors within the last 3 to 5 generations.

(The best way to order a SNP test is to email info@familytreedna.com or telephone them and inquire what test they suggest.)

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Epilogue
- Comparison:

Technology Characteristics
Y Chromosome DNA
  • Does not undergo recombination.
  • Traces single line (paternal).
  • High-resolution match – 50% common ancestor within 3 generations; 90% within 5 generations.
  • Useful for recent and deep ancestry studies.
  • Useful for male line relationships (cousins).
mtDNA
  • Does not undergo recombination.
  • Traces single line (maternal).
  • High-resolution match – 50% common ancestor with 28 generations
  • Useful for deep ancestry and regional studies.
  • Can provide clues to recent ancestry.
Autosomal DNA
  • Recombinant (shared DNA decreases with each generation).
  • Shared DNA between relatives finds recent ancestors and cousins.
  • Useful for recent relationships and ancestral studies.
X Chromosome DNA
  • Similar to Autosomal DNA.
  • More difficult because of varying recombinant percentages and omitted ancestors.
  • Does not include all ancestors.
  • Useful for recent relationships and ancestral studies.

 
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- Considerations:

  • family member not biologically related
  • social ancestry ≠ biological ancestry
  • discover unexpected health issues
  • security of your data
  • errors in disease risk predictions
  • accuracy of the data
Be aware of the ramifications of a DNA test before doing it. Discovering that someone isn't biologically related or learning about a health risk can be upsetting.
 – Health information should be reviewed by your doctor.
 – Only use certified testing companies -- Family Tree DNA and 23andMe for example.
 – Certified laboratories have procedures to minimize errors, but they can still occur.  Check with your doctor about any health-related issue.
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- The Threat to Genetic Genealogy
  • Is DTC testing going to be curtailed?
  • The field of genetic genealogy could become too expensive and impractical.
  • Could slow discovery of new DNA techniques
  • Could restrict access to DNA testing for health predispositions, carrier traits, drug interactions, etc.
Is the Honeymoon Over? (Are DTC tests going to be curtailed?)

– With the advent of autosomal testing, some companies now offer paternity tests and include published scientific findings that correlate certain genetic information to a predisposition to certain medical conditions and drug interactions.

– The FDA is alleging these tests are "medical devices" and is threatening to curtail DTC (Direct to Consumer) marketing. This could make the cost of genetic tests prohibitive for genealogists.

– Proponents of federal regulation cite instances of unscrupulous companies, errors in processing, "medical diagnoses", and the fear that people might harm themselves by reacting to the knowledge gained from the tests.

– Opponents of limiting access to DNA information allege that they have the right to information about their DNA without any intermediary, that the responsibility for the use of that knowledge rests with each individual and that genealogical research is not a medical use. They are not opposed to oversight and the leading companies in genealogical DNA testing are already certified to the same standards as for hospital laboratories.

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Resources
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The Cloud Surname Y-DNA Project website:
http://mykindred.com/cloud/dna/

There are pages here for:
 – How DNA can help us, goals for our project, a FAQ and recommendations for the testing company.
 – How to join the project, including the need for pedigree information.
 – Project results data and analysis.
 – DNA references.

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Books and videos about DNA and genealogy can be found on the website:
http://astore.amazon.com/cdna-20
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- Links:
Cloud Surname DNA Project
 – http://mykindred.com/cloud/dna
Family Tree DNA
 – http://www.familytreedna.com
Family Tree DNA FAQ Index
 – http://www.familytreedna.com/faq
Family Finder FAQ
 – http://www.familytreedna.com/faq/answers/17.aspx
23andMe
 – https://www.23andme.com/ancestry/relfinder/
23andMe – Genetics 101
 – https://www.23andme.com/gen101/
ISOGG
 – http://isogg.org/
Learn about Y-chromosome Haplogroup I
 – http://www.genebase.com/tutorial/item.php?tuId=12
Learn about Y-chromosome Haplogroup Q
 – http://www.genebase.com/tutorial/item.php?tuId=16
Learn about Y-chromosome Haplogroup R
 – http://www.genebase.com/tutorial/item.php?tuId=11
Geographic spread and ethnic origins of European haplogroups
 – http://www.eupedia.com/europe/origins_haplogroups_europe.shtml#Q
R U106 Project
 – http://www.familytreedna.com/public/U106/default.aspx
U106 Project data
 – http://weston-genealogy.net/R_U106/
Sorenson Molecular Genealogy Foundation (SMGF)
 – http://www.smgf.org/
Univ. of Utah Genealogy Tour
 – http://learn.genetics.utah.edu/content/begin/tour/
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