A locus for autosomal dominant anterior polar cataract on chromosome 17p

被引：57

作者：

Berry, V

Ionides, ACW

Moore, AT

Plant, C

Bhattacharya, SS

Shiels, A

机构：

[1] UCL, INST OPHTHALMOL, DEPT MOLEC GENET, LONDON EC1V 9EL, ENGLAND

[2] MOORFIELDS EYE HOSP, LONDON EC1V 2PD, ENGLAND

来源：

HUMAN MOLECULAR GENETICS | 1996年 / 5卷 / 03期

基金：

英国惠康基金;

关键词：

D O I：

10.1093/hmg/5.3.415

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Inherited cataract is a clinically and genetically heterogeneous disease, Here we report the identification of a new locus for an autosomal dominant anterior polar cataract on the short arm of chromosome 17. To map this new locus we performed genetic linkage analysis with microsatellite markers in a four-generation pedigree. After exclusion of seven candidate loci for cataract, we obtained significant positive LOD scores for markers D17S849 (Z = 4.01 @ theta = 0.05) and D17S796 (Z = 4.17 @ theta = 0.05). Multipoint analysis gave a maximum LOD score of 5.2 (theta(max) = 0.06) between these two markers, From haplotype analysis, the cataract locus lies in the 13 cM interval between markers D17S849 and D17S796. This study provides the first genetic mapping of an autosomal dominant anterior polar cataract.

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页码：415 / 419

页数：5

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