GENETIC REFINEMENT OF THE CHROMOSOME-5Q LATTICE CORNEAL-DYSTROPHY TYPE-I LOCUS TO WITHIN A 2-CM INTERVAL

被引：21

作者：

GREGORY, CY

EVANS, K

BHATTACHARYA, SS

机构：

[1] Department of Molecular Genetics, Institute of Ophthalmology, London EC1V 9EL, Bath Street

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.32.3.224

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Lattice corneal dystrophy type I (LCDI) is a relatively common corneal dystrophy which can cause severe visual impairment. Recent studies have suggested a genetic localisation for the disease to chromosome 5q. Independent genetic linkage analysis in a six generation LCDI pedigree confirmed linkage to the 5q region bounded by marker loci IL9 and D5S436 suggesting genetic homogeneity. A maximum two point lod score of 7.51 (theta = 0.03) was obtained with marker D5S393. Multipoint and haplotype data positioned the disease between loci D5S393 and D5S396 corresponding to a genetic distance of 2cM, thus refining linkage sufficiently to allow for physical mapping of this disorder.

引用

页码：224 / 226

页数：3

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