Mitochondrial DNA testing is a type of genetic testing which is used to find out more about the mother’s side of the family as mitochondrial DNA (also known as maternal DNA) is passed from the mother to her children. In this article we are going to look at how mitochondrial DNA testing is done, what it is used for and the differences to nuclear DNA testing.


Mitochondrial DNA is DNA found in the mitochondria of the cells and is different to the nuclear DNA. The nuclear DNA is a mix of the mother and father’s DNA, whereas mitochondrial DNA is only inherited from the mother. When the egg from the mother and the sperm from the father join to form the new baby the tail of the sperm which contains the father’s mitochondrial DNA is left behind and so only the mother’s mitochondrial DNA is passed onto the child.

Like nuclear DNA tests mitochondrial DNA testing is done by first collecting a sample of DNA either through a blood sample or through a cheek swab, the cheek swab being the preferred method used. These samples are then sent away to laboratories that do mitochondrial DNA testing and they in turn analyze the results.

Mitochondrial DNA testing is used for a number of reasons – the first is to establish a direct family link on the mother’s side of the family, it can also be used in ancestry DNA testing to test the mother’s ancestry or in forensic DNA testing.

In the 1980’s Dr Mary Claire King also started using mitochondrial DNA testing to solve cases where the parents of a child are unknown. She used a section on the mitochondrial DNA that varied substantially and so provided evidence of who the mother or grandmother was. Due to the fact that mitochondrial DNA is passed directly from mother to child through the generations, maternal aunts and uncles should also contain mitochondrial DNA matching that of a child with missing parents and so if the maternal grandmother cannot be found it is possible to try matching the child with an aunt or uncle.

In conclusion mitochondrial DNA testing involves the testing of mitochondrial DNA which is passed on from mother to child through the generations and so may be used both to match a child with its maternal grandmother, aunt or uncles if the mother is missing but also can be used in ancestry DNA testing of the maternal side.

Learn more about paternity test on our site. You'll also find other information such as Prenatal DNA test and postnatal DNA testing GeneticDNATestingHelp.org is a comprehensive resource for people who are interested in gentic DNA testing for paternity, genealogy, or medical reasons.

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