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A part of high school genetics, used for many types of genetic testing, has been found with exceptions. Although mitochondrial DNA (mtDNA) is usually received from the mother, three families were identified where people received some of their mtDNA, three quarters in the most extreme case, from their father. The discovery may change the way we treat mitochondrial diseases and call into question genetic testing of maternal ancestry.
MtDNA exists separately from the rest of our DNA, within the thousands of mitochondria within each cell, rather than the cell nucleus. It is so widely accepted as being on the mother's side, sometimes it is known as the Eva gene, the idea is that it can be traced back to a primitive mother of all living humans. The mtDNA test is used to identify maternal ancestry.
However, everything will have to change after Dr. Shiyu Luo of the Children's Hospital of Cincinnati Medical Center published an article in the Proceedings of the National Academy of Sciences.
The first exception of Luo is a boy who at four years old was hospitalized with symptoms suggestive of mitochondrial disease. Sequencing of the boy's mitochondria did not reveal disease-causing genes, but some oddities in mtDNA led Luo and colleagues to sequence other family members for comparison. About 40 percent of the boy's mitochondria matched those of his mother's father, and only 60 percent came from his grandmother.
After testing other members of the same family and other families with mitochondrial diseases, Luo found that although the father's inheritance was very rare, it occurred at least 17 times in three families tested.
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