利用与复杂综合征相关的Xq21缺失对脉络膜视网膜病变基因座进行物理精细定位。

Physical fine mapping of the choroideremia locus using Xq21 deletions associated with complex syndromes.

作者信息

Cremers F P, van de Pol D J, Diergaarde P J, Wieringa B, Nussbaum R L, Schwartz M, Ropers H H

机构信息

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

出版信息

Genomics. 1989 Jan;4(1):41-6. doi: 10.1016/0888-7543(89)90312-1.

DOI:10.1016/0888-7543(89)90312-1

PMID:2914708

Abstract

Characterization of several male-viable deletions and duplications with 20 random DNA probes has enabled us to subdivide the Xq21 region into seven discernible intervals. Almost all of the deletions spanning part of Xq21 are associated with choroideremia and mental retardation, with deafness being another common feature. The gene locus for choroideremia was assigned to interval 3 spanning the loci DXS95, DXS165, and DXS233. Genes for X-linked deafness and mental retardation were tentatively assigned to interval 2. Deletions of intervals 4 through 7 were not associated with any clinical abnormality. We have constructed a preliminary long-range restriction map of intervals 2 and 3 using field-inversion gel electrophoresis. The DXS232, DXS121, and DXS233 loci are located on the same SfiI fragment, whereas the DXS165 and DXS95 loci could not be linked to this cluster using SfiI and SalI.

摘要

利用20个随机DNA探针对几个雄性可存活的缺失和重复进行特征分析，使我们能够将Xq21区域细分为七个可辨别的区间。几乎所有跨越Xq21部分区域的缺失都与脉络膜视网膜病变和智力迟钝相关，耳聋是另一个常见特征。脉络膜视网膜病变的基因座被定位到跨越DXS95、DXS165和DXS233基因座的区间3。X连锁性耳聋和智力迟钝的基因被初步定位到区间2。区间4至7的缺失与任何临床异常均无关联。我们使用脉冲场凝胶电泳构建了区间2和3的初步长程限制酶切图谱。DXS232、DXS121和DXS233基因座位于同一片段上，而使用SfiI和SalI无法将DXS165和DXS95基因座与该簇连接起来。