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Molecular definition of the Prader — Willi syndrome chromosome region and orientation of the SNRPN gene

1993; Oxford University Press; Volume: 2; Issue: 12 Linguagem: Inglês

10.1093/hmg/2.12.1991

1460-2083

Karin Bulting, Bärbel Dlttrich, Stephanle Groß, Valerie Greger, Marc Lalande, Wendy P. Robinson, Apiwat Mutirangura, David H. Ledbetter, Bernhard Horsthemke,

Chromosomal and Genetic Variations

The Prader—Willi syndrome and the Angelman syndrome are caused by the loss of function of distinct but closely linked genes on human chromosome 15. Based on a yeast artificial chromosome restriction map and two key patients we have determined that the shortest region of deletion overlap in the Prader—Willi syndrome comprises 320 kb. The region Includes the anonymous DNA marker PW71 (D15S63) and the gene for the small nuclear ribonucleoprotein N (SNRPN). The SNRPN gene maps 130 kb distal to PW71 and is transcribed from centromere to telomere.