常染色体显性遗传性视网膜色素变性的第八个基因座与17号染色体长臂相关联。

An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q.

作者信息

Bardien S, Ebenezer N, Greenberg J, Inglehearn C F, Bartmann L, Goliath R, Beighton P, Ramesar R, Bhattacharya S S

机构信息

Department of Human Genetics, University of Cape Town Medical School, Observatory, South Africa.

出版信息

Hum Mol Genet. 1995 Aug;4(8):1459-62. doi: 10.1093/hmg/4.8.1459.

DOI:10.1093/hmg/4.8.1459

PMID:7581389

Abstract

Retinitis pigmentosa is one of the most common causes of severe visual handicap in middle to late life. Prior to this report, seven loci had previously been mapped for the autosomal dominant form of this disorder (adRP). We now report the identification of a novel adRP locus on chromosome 17q. To map the new locus, we performed linkage analysis with microsatellite markers in a large South African kindred. After exclusion of 13 RP candidate gene loci (including rhodopsin and peripherin-RDS), we obtained significant positive lod scores at zero recombination fraction (theta = 0) for D17S808 (Z = 4.63) and D17S807 (Z = 5.69). Multipoint analysis gave a maximum lod score of 8.28 between these two markers. From haplotype analysis, the disease locus lies in the interval between markers D17S809 and D17S942. Three candidate genes for retinal dystrophies map to this chromosomal region and these genes are currently being investigated for possible involvement with adRP in this family.

摘要

视网膜色素变性是中年至老年严重视力障碍的最常见原因之一。在本报告之前，已经对该疾病的常染色体显性形式（adRP）定位了7个基因座。我们现在报告在17号染色体q上鉴定出一个新的adRP基因座。为了定位这个新基因座，我们在一个大型南非家族中用微卫星标记进行了连锁分析。在排除13个RP候选基因座（包括视紫红质和外周蛋白-RDS）后，我们在D17S808（Z = 4.63）和D17S807（Z = 5.69）的零重组率（theta = 0）处获得了显著的正lod分数。多点分析在这两个标记之间给出了最大lod分数8.28。从单倍型分析来看，疾病基因座位于标记D17S809和D17S942之间的区间。三个视网膜营养不良的候选基因定位于这个染色体区域，目前正在研究这些基因是否可能与这个家族中的adRP有关。