辛普森-戈拉比-贝梅尔综合征定位于Xq25-q27。

Mapping of Simpson-Golabi-Behmel syndrome to Xq25-q27.

作者信息

Xuan J Y, Besner A, Ireland M, Hughes-Benzie R M, MacKenzie A E

机构信息

Department of Biochemistry, University of Ottawa, Ontario, Canada.

出版信息

Hum Mol Genet. 1994 Jan;3(1):133-7. doi: 10.1093/hmg/3.1.133.

DOI:10.1093/hmg/3.1.133

PMID:7909248

Abstract

Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked gigantism syndrome characterized primarily by a coarse facies and somatic overgrowth which we have observed to be associated with an increased risk for embryonal tumors. Genetic linkage analysis for two SGBS kindreds in which X linked dominant inheritance was observed has been conducted for the X chromosome. The closest linkage to SGBS was observed for the Xq26 locus HPRT (Z max = 7.45, theta max = 0.00). SGBS-Xq marker recombinations map the disease locus to the DXS425-DXS1123 interval on Xq25-q27. This maps the disease locus to a region known to contain a previously characterized chromosomal translocation breakpoint found in a young girl with somatic overgrowth. This observation may have implications for the cloning of the SGBS gene.

摘要

辛普森-戈拉比-贝梅尔综合征（SGBS）是一种X连锁的巨人症综合征，主要特征为面容粗糙和身体过度生长，我们观察到其与胚胎肿瘤风险增加有关。对两个观察到X连锁显性遗传的SGBS家族进行了X染色体的遗传连锁分析。在Xq26位点HPRT观察到与SGBS的最紧密连锁（Z最大值 = 7.45，θ最大值 = 0.00）。SGBS-Xq标记重组将疾病位点定位到Xq25-q27上的DXS425-DXS1123区间。这将疾病位点定位到一个已知包含在一名身体过度生长的年轻女孩中发现的先前特征性染色体易位断点的区域。这一观察结果可能对SGBS基因的克隆有启示意义。