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Hum Mol Genet. 1993 Dec;2(12):1991-4.

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

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Institut f├╝r Humangenetik, Universit├Ątsklinikum Essen, Germany.


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.

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