Human Genetics

When genetic diversity hurts the kids

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Science  05 Sep 2014:
Vol. 345, Issue 6201, pp. 1132
DOI: 10.1126/science.345.6201.1132-h

Although we think of the genome as fixed, errors in DNA replication and recombination can cause changes. As the organism develops, individual nucleotides may mutate, or genetic material may duplicate or be deleted. Such “somatic mosaicism” means that different cells and tissues in the body may have different genomes. To determine whether this affects human disease, Campbell et al. took blood samples from 100 families with children who have genetic disorders. They found that approximately 4% of the parents (who were all healthy) exhibited somatic mosaicism, which suggests that the affected children inherited the mutation from a mosaic parent. These results suggest that somatic mosaicism is probably more common than previously thought and affects human health.

Am. J. of Hum. Genet. 10.1016/j.ajhg.2014.07.003 (2014).

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