1号染色体短臂上常染色体显性遗传后极性白内障的一个基因座。

A locus for autosomal dominant posterior polar cataract on chromosome 1p.

作者信息

Ionides A C, Berry V, Mackay D S, Moore A T, Bhattacharya S S, Shiels A

机构信息

Department of Molecular Genetics, Institute of Ophthalmology, University College London, UK.

出版信息

Hum Mol Genet. 1997 Jan;6(1):47-51. doi: 10.1093/hmg/6.1.47.

DOI:10.1093/hmg/6.1.47

PMID:9002669

Abstract

Autosomal dominant congenital cataract is a clinically and genetically heterogeneous lens disease. Here we report the linkage of a locus for autosomal dominant posterior polar cataract (CPP) to the distal short arm of chromosome 1. To map the CPP locus we performed molecular genetic linkage analysis using microsatellite markers in a three-generation pedigree. After exclusion of 13 known loci and candidate lens genes for autosomal dominant cataract, we obtained significantly positive LOD scores for markers D1S508 (Z = 3.14, theta = 0) and D1S468 (Z = 2.71, theta = 0). Multipoint analysis gave a maximum LOD score of 3.48 (theta = 0.07) between markers D1S508 and D1S468. From haplotype data, however, CPP probably lies in the telomeric interval D1S2845-1pter, which includes the locus for the clinically distinct Volkman congenital cataract (CCV). This study provides the first evidence for genetic heterogeneity of autosomal dominant posterior polar cataract for which a locus had been linked previously to chromosome 16q.

摘要

常染色体显性遗传性先天性白内障是一种临床和遗传上均具有异质性的晶状体疾病。在此我们报告常染色体显性遗传性后极性白内障（CPP）的一个基因座与1号染色体短臂远端连锁。为了定位CPP基因座，我们在一个三代家系中使用微卫星标记进行了分子遗传连锁分析。在排除了13个已知的常染色体显性遗传性白内障基因座和候选晶状体基因后，我们获得了标记D1S508（Z = 3.14，θ = 0）和D1S468（Z = 2.71，θ = 0）的显著阳性LOD分值。多点分析显示在标记D1S508和D1S468之间的最大LOD分值为3.48（θ = 0.07）。然而，从单倍型数据来看，CPP可能位于端粒区间D1S2845 - 1pter，其中包括临床上不同的福尔克曼先天性白内障（CCV）的基因座。本研究首次为常染色体显性遗传性后极性白内障的遗传异质性提供了证据，此前该基因座已被定位于16号染色体长臂。