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To date, most cases of uniparental disomy—having two copies of a chromosome from either mom or dad, rather than one from each—have been identified in the context of disease, but a new study from researchers at the direct-to-consumer genetics company 23andMe finds that this phenomenon is more common than previously realized and exists in many healthy individuals. The study, published yesterday (October 10) in the American Journal of Human Genetics, suggests that uniparental disomy (UPD) occurs in about one in every 2,000 people.
“So that’s about twice as common as was previously thought,” coauthor Priyanka Nakka, a postdoc at Boston Children’s Hospital and a former 23andMe intern, tells Gizmodo.
The analysis, which included nearly 4.5 million 23andMe customers as well as 430,000 people in the UK Biobank, found that UPD could affect nearly any of the chromosomes, including the sex chromosomes. The researchers identified cases of ...
