对一名患有拟常染色体区域缺失但身高正常的女性的X;Y易位染色体进行的分子研究。

Molecular studies of an X;Y translocation chromosome in a woman with deletion of the pseudoautosomal region but normal height.

作者信息

Spranger S, Kirsch S, Mertz A, Schiebel K, Tariverdian G, Rappold G A

机构信息

Institute of Human Genetics, University of Heidelberg, Germany.

出版信息

Clin Genet. 1997 May;51(5):346-50. doi: 10.1111/j.1399-0004.1997.tb02486.x.

DOI:10.1111/j.1399-0004.1997.tb02486.x

PMID:9212185

Abstract

A translocation chromosome in a woman with the karyotype 46,X,der(X)t(X;Y)(p22.3; q11.2) was investigated by FISH and STS analysis with molecular probes derived from the sex chromosomes. Due to the partial deletion of the short arm pseudoautosomal region (PAR1) from DXYS14 to DXYS147 in the translocation chromosome, the proband is hemizygous for the gene responsible for growth control (SS) located in this region, yet does not show growth retardation. Molecular analysis of the Yq arm of the translocation chromosome revealed the presence of markers DYS273 to DYS246 harboring the hypothesized growth control gene critical region (GCY) on Yq, thereby placing the deletion breakpoint between markers DYS11 and DYS273. These results suggest that the Y-specific growth gene GCY on Yq compensates for the missing growth gene SS on Xp22.3.

摘要

对一名核型为46,X,der(X)t(X;Y)(p22.3; q11.2)的女性的易位染色体，使用源自性染色体的分子探针通过荧光原位杂交（FISH）和序列标签位点（STS）分析进行了研究。由于易位染色体上从DXYS14到DXYS147的短臂假常染色体区域（PAR1）部分缺失，先证者对于位于该区域的负责生长控制的基因（SS）呈半合子状态，但未表现出生长迟缓。对易位染色体的Yq臂进行分子分析发现，存在标记DYS273至DYS246，其在Yq上包含假定的生长控制基因关键区域（GCY），从而将缺失断点定位在标记DYS11和DYS273之间。这些结果表明，Yq上的Y特异性生长基因GCY补偿了Xp22.3上缺失的生长基因SS。