Xq13.3-q21.31区域的酵母人工染色体克隆以及与脉络膜缺损和非特异性智力迟钝相关的缺失的精细定位。

Yeast artificial chromosome cloning of the Xq13.3-q21.31 region and fine mapping of a deletion associated with choroideremia and nonspecific mental retardation.

作者信息

van der Maarel S M, Scholten I H, Maat-Kievit J A, Huber I, de Kok Y J, de Wijs I, van de Pol T J, van Bokhoven H, den Dunnen J T, van Ommen G J

机构信息

Department of Human Genetics, University Hospital Nijmegen, The Netherlands.

出版信息

Eur J Hum Genet. 1995;3(4):207-18. doi: 10.1159/000472301.

DOI:10.1159/000472301

PMID:8528669

Abstract

Microscopically detectable deletions and X;autosome translocations have previously facilitated the construction of a high-resolution interval map of the Xq21 region. Here, we have generated three yeast artificial chromosome contigs spanning approximately 7 megabases of the Xq13.3-q21.31 region. In addition, a novel deletion associated with choroideremia and mental retardation was identified and mapped in detail. The proximal deletion endpoint was positioned between the loci DXS995 and DXS232, which enabled us to confirm the critical region for a locus involved in mental retardation. The distal deletion endpoint is situated in the Xq21.33 band, which allowed us to refine the order of several markers in this region.

摘要

显微镜下可检测到的缺失以及X;常染色体易位先前已推动了Xq21区域高分辨率区间图谱的构建。在此，我们构建了三个酵母人工染色体重叠群，覆盖了Xq13.3 - q21.31区域约7兆碱基的范围。此外，还鉴定出一个与脉络膜视网膜病变和智力迟钝相关的新缺失，并对其进行了详细定位。近端缺失端点位于DXS995和DXS232基因座之间，这使我们能够确定智力迟钝相关基因座的关键区域。远端缺失端点位于Xq21.33带，这使我们能够完善该区域几个标记的顺序。