普拉德-威利综合征染色体区域的分子定义及小核核糖核蛋白多肽N基因的定位
Molecular definition of the Prader-Willi syndrome chromosome region and orientation of the SNRPN gene.
作者信息
Buiting K, Dittrich B, Gross S, Greger V, Lalande M, Robinson W, Mutirangura A, Ledbetter D, Horsthemke B
机构信息
Institut für Humangenetik, Universitätsklinikum Essen, Germany.
出版信息
Hum Mol Genet. 1993 Dec;2(12):1991-4. doi: 10.1093/hmg/2.12.1991.
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.
普拉德-威利综合征和安吉尔曼综合征是由人类15号染色体上不同但紧密相连的基因功能丧失引起的。基于酵母人工染色体限制性图谱和两名关键患者，我们确定普拉德-威利综合征中缺失重叠的最短区域为320 kb。该区域包括匿名DNA标记PW71（D15S63）和小核核糖核蛋白N（SNRPN）的基因。SNRPN基因位于PW71远端130 kb处，从着丝粒向端粒转录。
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