EVIDENCE FOR GENETIC-HETEROGENEITY IN BESTS VITELLIFORM MACULAR DYSTROPHY

被引：9

作者：

MANSERGH, FC

KENNA, PF

RUDOLPH, G

MEITINGER, T

FARRAR, GJ

KUMARSINGH, R

SCORER, J

HALLY, AM

MYNETTJOHNSON, L

HUMPHRIES, MM

KIANG, S

HUMPHRIES, P

机构：

[1] UNIV MUNICH,KINDERPOLIKLIN,PAEDIAT GENET ABT,GENET BERATUNGSSTELLE,D-80336 MUNICH,GERMANY

[2] UNIV MUNICH,AUGENKLIN,D-80336 MUNICH,GERMANY

[3] EYE & EAR HOSP,RES FDN,DUBLIN 2,IRELAND

来源：

JOURNAL OF MEDICAL GENETICS | 1995年 / 32卷 / 11期

基金：

英国惠康基金;

关键词：

D O I：

10.1136/jmg.32.11.855

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Best's vitelliform macular dystrophy is an early onset, autosomal dominant macular degeneration. Linkage analysis has previously mapped a disease locus in this disorder to the pericentromeric region of chromosome 11. We examined two families, one of German and one of Irish origin, both affected with this disorder. The Irish family (BTMD1) showed strong evidence for linkage to the previously reported locus on chromosome 11. Linkage of the disease locus to the same region of chromosome 11 has been significantly excluded in the German family (Fam E), thereby providing evidence of locus heterogeneity in this clinically unique condition.

引用

页码：855 / 858

页数：4

共 26 条

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Arden G B, 1962, Br J Ophthalmol, V46, P449, DOI 10.1136/bjo.46.8.449

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