LOCALIZATION OF AN AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA GENE TO CHROMOSOME-7Q

被引：98

作者：

JORDAN, SA ^{[1
]}

FARRAR, GJ ^{[1
]}

KENNA, P ^{[1
]}

HUMPHRIES, MM ^{[1
]}

SHEILS, DM ^{[1
]}

KUMARSINGH, R ^{[1
]}

SHARP, EM ^{[1
]}

SORIANO, N ^{[1
]}

AYUSO, C ^{[1
]}

BENITEZ, J ^{[1
]}

HUMPHRIES, P ^{[1
]}

机构：

[1] FDN JIMENEZ DIAZ,DEPT GENET,E-28040 MADRID,SPAIN

来源：

NATURE GENETICS | 1993年 / 4卷 / 01期

基金：

英国惠康基金;

关键词：

D O I：

10.1038/ng0593-54

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Retinitis pigmentosa is a group of clinically and genetically heterogeneous retinopathies and a significant cause of worldwide visual handicap. We have typed DNA from members of a Spanish family segregating an autosomal dominant form of retinitis pigmentosa (adRP) using a large series of simple sequence polymorphic markers. Positive two-point lod scores have been obtained with fifteen markers including D7S480 (theta(max)=0.00, Z(max)=7.22). Multipoint analyses using a subset of these markers gave a lod score of 7.51 maximizing at D7S480. These data provide definitive evidence for the localisation of an adRP gene on chromsome 7q, and highlight the extensive genetic heterogeneity that exists in the autosomal dominant form of this disease.

引用

页码：54 / 58

页数：5

共 36 条

[1] A COMPUTER-PROGRAM TO MAKE LINKAGE ANALYSIS WITH LIPED AND LINKAGE EASIER TO PERFORM AND LESS PRONE TO INPUT ERRORS [J].