LINKAGE REFINEMENT LOCALIZES SORSBY FUNDUS DYSTROPHY BETWEEN MARKERS D22S275 AND D22S278

被引：8

作者：

GREGORY, CY ^{[1
]}

WIJESURIYA, S ^{[1
]}

EVANS, K ^{[1
]}

JAY, M ^{[1
]}

BIRD, AC ^{[1
]}

BHATTACHARYA, SS ^{[1
]}

机构：

[1] MOORFIELDS EYE HOSP,DEPT CLIN OPHTHALMOL,LONDON EC1V 2PD,ENGLAND

来源：

JOURNAL OF MEDICAL GENETICS | 1995年 / 32卷 / 03期

基金：

英国惠康基金;

关键词：

D O I：

10.1136/jmg.32.3.240

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Sorsby fundus dystrophy is an autosomal dominant disorder which both clinically and histopathologically bears striking similarities to age related macular degeneration, one of the leading causes of blindness in the developed world. Recent studies have suggested a genetic localisation of the disease to chromosome 22q in a large genetic interval of approximately 25 cM. Independent genetic Linkage analysis in a six generation British pedigree confirms linkage to the chromosome 22q region. A maximum two point lod score of 7 . 09 with no recombination was obtained with marker D22S280. Haplotype data positioned the disease between loci D22S275 and D22S278, thus significantly reducing the region on chromosome 22q where the gene is located.

引用

页码：240 / 241

页数：2

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