Research NewsHuman Genetics

Annual Genetics Meeting: Some Puzzles, Some Answers

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Science  17 Nov 1995:
Vol. 270, Issue 5239, pp. 1120-1121
DOI: 10.1126/science.270.5239.1120


Minneapolis—Participants in the 45th Annual Meeting of the American Society for Human Genetics learned about the possible solution of another genetic mystery: how a defect in a single gene might bring about the many symptoms of myotonic dystrophy (DM). The RNA produced by the mutant DM gene somehow interferes with the cell's handling of RNAs made by other genes, giving it the potential to expand its reach into several different systems. Researchers also reported tracing the origin of the “sporadic” mutations that cause Apert's syndrome to the patients' fathers. That's no surprise, but the method they used has the potential to help identify the origins of other sporadic genetic disorders.