Evidence for a fourth locus in Usher syndrome type I

被引：6

作者：

Gerber, S

LargetPiet, D

Rozet, JM

Bonneau, D

Mathieu, M

DerKaloustian, V

Munnich, A

Kaplan, J

机构：

[1] HOP NECKER ENFANTS MALAD, SERV GENET, F-75743 PARIS 15, FRANCE

[2] HOP NECKER ENFANTS MALAD, INSERM U393, UNITE RECH HANDICAPS GENET ENFANT, F-75743 PARIS 15, FRANCE

[3] HOP JEAN BERNARD, UNITE GENET MED, CLIN MED INFANTILE, F-86021 POITIERS, FRANCE

[4] CHRU AMIENS, F-80054 AMIENS, FRANCE

[5] MCGILL UNIV, MONTREAL CHILDRENS HOSP, MONTREAL, PQ H3H 1P3, CANADA

来源：

JOURNAL OF MEDICAL GENETICS | 1996年 / 33卷 / 01期

关键词：

Usher syndrome type I; fourth locus;

D O I：

10.1136/jmg.33.1.77

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Usher syndrome type I (US1) is an autosomal recessive condition in which three different genes have been already localised (USH1A, USH1B, and USH1C on chromosomes 14q32, 11q13, and 11p15 respectively). The genetic heterogeneity of US1 has been confirmed in a previous study by linkage analysis of 20 French pedigrees. Here, we report the genetic exclusion of the three previously reported loci in two large multiplex families of Moroccan and Pakistani origin, suggesting the existence of at least a fourth locus in Usher syndrome type I.

引用

页码：77 / 79

页数：3

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