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Diving Deeper Into Genetic Genealogy Handout DIVING DEEPER INTO GENETIC GENEALOGY Presented by Melissa A. Johnson, CGSM [email protected] ETHNICITY RESULTS testing has not been particularly useful for The ethnicity information (also known as genealogy, but tests are now more refined biogeographical data) that is part of a test and this is changing. taker’s overall DNA test results is based • STR (short tandem repeat) testing examines on comparisons of the test taker’s DNA to a specific number of STR markers (as chosen sample populations. Each of the DNA testing by the test taker—typically 12, 37, 67, or 111 companies uses different calculations to markers). Tests of 37 markers or more can compare the test taker’s DNA to proprietary be genealogically useful. sample populations, as well as to publicly available sample population data. As a result, With Y-chromosome STR testing, a test taker’s a test taker’s ethnicity information will vary Y-DNA matches are determined by the number from company to company. The science behind of identical STR marker values. Identifying ethnicity results is still in its infancy. Ethnicity how closely related a test taker is to his Y-DNA results can be interesting, but they are not as matches can be difficult, as a number of factors useful for genealogical research as examining need to be considered, including: DNA matches. • the number of non-matching STR marker values in relation to the number of markers tested; and Y-CHROMOSOME DNA TESTING • the mutation rates for the tested markers Y-chromosome DNA is passed down the male (some STR markers mutate at higher rates line, from father to son. The Y-chromosome than others). changes very little as it is passed from generation to generation. As a result, Family Tree DNA’s Y-chromosome match lists Y-chromosome DNA matches can be two men provide the number of non-matching STR who share a close relative such as a grandparent, marker values in terms of “genetic distance.” or two men who share a very distant ancestor For example, if two men are Y-chromosome who lived 2,000 or more years ago. Some very matches with exactly matching markers, small changes in the Y-chromosome take place FTDNA will show a genetic distance of zero. as it is passed from generation to generation. This can indicate that the two men have a These changes, known as mutations, can common ancestor within a “genealogical be extremely useful for solving genealogical time frame” (a time frame that is possible to problems and determining how closely related research). If two men who are Y-chromosome two Y-chromosome DNA matches are likely to matches show different values on two STR be. markers, FTDNA will show a genetic distance of 2. This typically indicates that the common Two types of Y-chromosome DNA testing is ancestor for these men is much farther back, available: and probably not within a genealogical time • SNP (single nucleotide polymorphism) frame. testing identifies the test taker’s deep ancestry and haplogroup. In the past, this To determine how long ago (in years or © 2019 Melissa A. Johnson, CG | [email protected] DIVING DEEPER INTO GENETIC GENEALOGY generations) the common ancestor of two database where test takers can upload Y-DNA matches may have lived, see: https:// their data. This resource offers the ability isogg.org/wiki/Most_recent_common_ancestor. to connect with test takers from different companies. PRACTICAL TIPS FOR Y-DNA TESTING • Y-DNA or Surname Projects, where • Y-chromosome DNA testing can confirm groups of people come together to work on that two individuals share a common male identifying clusters of related individuals. ancestor, but the testing does not point • Y-DNA Tools (http://isogg.org/wiki/Y- to the specific identity of that ancestor. DNA_tools. However, Y-chromosome DNA testing • Y-DNA Mutation Rate Project (https:// alongn with other DNA tests and traditional thegeneticgenealogist.com/2017/05/05/the- genealogical research can prove the identity y-dna-mutation-rate-project/) of an ancestor. • A matching haplogroup for two males does not necessarily indicate a “Y-DNA match.” MITOCHONDRIAL DNA TESTING Some haplogroups are common to many Mitochondrial DNA (mtDNA) is passed from a individuals, such as R-M269, which is woman to her children, both male and female. common among European males. Whether However, only the woman’s female children will or not two individuals have a common male continue to pass the mitochondrial DNA on to line ancestor is determined by comparing their children; the woman’s male children will mutations. not pass it on. As with Y-chromosome DNA • Y-chromosome DNA testing is best testing, mitochondrial DNA changes very little used for problem-solving related to a as it is passed from generation to generation. specific question; unlike autosomal DNA, Y-chromosome DNA testing is not usually Mitochondrial DNA testing can include the useful for “fishing” for DNA matches. entire mitochondrial molecule (mtFull Sequence • A recommended testing plan is to test with test at FTDNA) or only two regions of the FTDNA on the Y-37 level first. If matches mitochondrial molecule, HVR1 and HVR2 appear to be relevant within a genealogical (mtDNA Plus test at FTDNA). The higher time frame, then the test can be upgraded level of testing (mtFull Sequence) is highly to Y-67 or Y-111 for further analysis. If test recommended. The lower level of testing takers do not have any relevant or close (mtDNA Plus) is not genealogically relevant. matches on the Y-37 level, there will be no benefit to upgrading the test. PRACTICAL TIPS FOR mtDNA TESTING • 23andMe does not offer Y-DNA SNP testing; • Mitochondrial DNA testing can confirm however, they provide test takers with a that two individuals share a common female predicted/estimated Y-DNA haplogroup. ancestor, but the testing does not point The 23andMe test can be used as a basis to the specific identity of that ancestor. for determining whether two people could However, mitochondrial DNA testing potentially be Y-chromosome DNA matches. combined with genealogical research and sometimes other test results can prove the USEFUL TOOLS identity of an ancestor. • A matching haplogroup for two females does • Y-Search (www.ysearch.org), a public not necessarily indicate a “mitochondrial © 2019 Melissa A. Johnson, CG | [email protected] DIVING DEEPER INTO GENETIC GENEALOGY match.” Some haplogroups are common from all lines of his or her family tree. Siblings to many individuals from certain areas of do not inherit the same combinations from their the world. Whether or not two individuals parents, and as a result, will have some different have a common female line ancestor is autosomal DNA matches. determined by comparing the location and value of differences between two individuals. When a person takes an autosomal DNA • Mitochondrial DNA testing is best used test, the genetic testing company searches for for problem-solving related to a specific patterns within their DNA. If two people have question; unlike autosomal DNA, it is an identical pattern on the same section of the not usually useful for “fishing” for DNA same chromosome (a “segment”), those two matches. people are genetic matches to each other. This • 23andMe does not offer mitochondrial DNA means they share a common ancestor, from testing; however, they provide test takers whom they both inherited that identical DNA with their predicted/estimated mtDNA pattern. haplogroup. The 23andMe test can be used as a basis for determining whether two A matching segment between two people is people could potentially be mitochondrial measured in centimorgans (cM). Many genetic DNA matches. testing sites (both the testing companies and third party sites) provide testers with the amount of DNA they share with others (in AUTOSOMAL DNA TESTING centimorgans), and also identify on which Everyone has two copies of each of their twenty- chromosomes that DNA is shared. The three chromosomes—one copy inherited from predicted relationship between two individuals their mother, and one copy inherited from is based in part on the total amount of DNA their father. Of those twenty-three pairs of they share. chromosomes, one pair determines gender. The remaining twenty-two pairs are the autosomal USEFUL TOOLS chromosomes. Several tools are helpful for determining The autosomal DNA (atDNA) that each person relationships based on the amount of shared receives from his or her parents is passed DNA between two individuals: on from generation to generation through a • Autosomal DNA Statistics (https://isogg. process called recombination. When a child org/wiki/Autosomal_DNA_statistics) is conceived, the father’s two copies of a • Shared cM Project (https:// chromosome break and recombine, and then a thegeneticgenealogist.com/2017/08/26/ random half of that recombined chromosome august-2017-update-to-the-shared-cm- passes to the child as one of the child’s two project/) copies. The same recombination happens • GedMatch (www.gedmatch.com), a third with the mother, and the random half of her party tool allowing users from multiple recombined chromosome passes to the child testing companies to compare their DNA in as the other one of the child’s two copies. This one database. recombination happens for each of the twenty- two autosomal chromosomes. The result is that a child inherits autosomal DNA from ancestors © 2019 Melissa A. Johnson, CG | [email protected] DIVING DEEPER INTO GENETIC GENEALOGY TESTING COMPANY COMPARISONS MyHeritage AncestryDNA • Chromosome browser • No chromosome browser • Internal messaging only • No X-DNA comparison available • Ability to view shared matches • Must send messages through Ancestry • Identifies if match is an X-DNA match • Ability to view shared matches (up to fourth • Many family trees cousins) • Higher match response • Matches filtered by parent (if parent tested) • Smaller database • High number of family trees • Accepts autosomal transfers • Family trees searchable by surname and location • DNA Circles, New Ancestry Discoveries, DNA MATCHES Genetic Communities (proprietary features) The key to using autosomal DNA in genealogy • Largest database is working with DNA matches.
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