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

作者：Karin Bulting, Bärbel Dlttrich, Stephanle Groß, Valerie Greger, Marc Lalande, Wendy P. Robinson, Apiwat Mutirangura, David H. Ledbetter, Bernhard Horsthemke · 发表于：Human Molecular Genetics · 年份：1993 · DOI：10.1093/hmg/2.12.1991 · 被引用次数：41 · 研究领域：Genetic Syndromes and Imprinting、Genomics and Chromatin Dynamics、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.