What is Genetic Ancestry Testing?

Genetic ancestry testing, or genetic genealogy, is a way for people interested in family history (genealogy) to go beyond what they can learn from relatives or from historical documentation. Examination of DNA variations can provide clues about where a person’s ancestors might have come from and about relationships between families. Certain patterns of genetic variation are often shared among people of particular backgrounds. The more closely related two individuals, families, or populations are, the more patterns of variation they typically share.

Three types of genetic ancestry testing are commonly used for genealogy:

  • Y chromosome testing: Variations in the Y chromosome, passed exclusively from father to son, can be used to explore ancestry in the direct male line. Y chromosome testing can only be done on males, because females do not have a Y chromosome. However, women interested in this type of genetic testing sometimes recruit a male relative to have the test done. Because the Y chromosome is passed on in the same pattern as are family names in many cultures, Y chromosome testing is often used to investigate questions such as whether two families with the same surname are related.

  • Mitochondrial DNA testing: This type of testing identifies genetic variations in mitochondrial DNA. Although most DNA is packaged in chromosomes within the cell nucleus, cell structures called mitochondria also have a small amount of their own DNA (known as mitochondrial DNA). Both males and females have mitochondrial DNA, which is passed on from their mothers, so this type of testing can be used by either sex. It provides information about the direct female ancestral line. Mitochondrial DNA testing can be useful for genealogy because it preserves information about female ancestors that may be lost from the historical record because of the way surnames are often passed down.

  • Single nucleotide polymorphism testing: These tests evaluate large numbers of variations (single nucleotide polymorphisms or SNPs) across a person’s entire genome. The results are compared with those of others who have taken the tests to provide an estimate of a person’s ethnic background. For example, the pattern of SNPs might indicate that a person’s ancestry is approximately 50 percent African, 25 percent European, 20 percent Asian, and 5 percent unknown. Genealogists use this type of test because Y chromosome and mitochondrial DNA test results, which represent only single ancestral lines, do not capture the overall ethnic background of an individual.

Read more here: http://ghr.nlm.nih.gov/handbook/testing/ancestrytesting

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