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Brief Communications

Nature 403, 723-724 (17 February 2000) | doi:10.1038/35001659

Conversion of diploidy to haploidy

Hai Yan1, Nickolas Papadopoulos2, Giancarlo Marra3, Claudia Perrera3, Josef Jiricny3, C. Richard Boland4, Henry T. Lynch5, Robert B. Chadwick6, Albert de la Chapelle6, Karin Berg1, James R. Eshleman1, Weishi Yuan1, Sanford Markowitz7, Steven J. Laken1, Christoph Lengauer1, Kenneth W. Kinzler1 & Bert Vogelstein1

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Individuals susceptible to multigene disorders may now be spotted more easily.

The problem with humans, at least from the perspective of genetic diagnostics, is that they have two copies of each of their chromosomes (diploidy). Mutations in one copy of a chromosome pair can therefore be obscured by the normal sequence present on the other copy of the chromosome.