A NEW LOCUS FOR AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA ON CHROMOSOME-7P

被引：85

作者：

INGLEHEARN, CF

CARTER, SA

KEEN, TJ

LINDSEY, J

STEPHENSON, AM

BASHIR, R

ALMAGHTHEH, M

MOORE, AT

JAY, M

BIRD, AC

BHATTACHARYA, SS

机构：

[1] NEWCASTLE UNIV,DEPT HUMAN GENET,NEWCASTLE TYNE NE4 2AJ,ENGLAND

[2] INST OPHTHALMOL,DEPT CLIN OPHTHALMOL,LONDON EC1V 2PD,ENGLAND

[3] MOORFIELDS EYE HOSP,LONDON EC1V 2PD,ENGLAND

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/ng0593-51

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Autosomal dominant retinitis pigmentosa (adRP) is known to result from mutations in two different retinal genes-rhodopsin and peripherin-while a third locus has been implicated by linkage data. However, families have been reported in which all three known loci have been excluded. We report linkage of adRP in one such family to two microsatellite markers on chromosome 7p. D7S435 has previously been localized to 7p13-15.1; D7S460, previously only localized to chromosome 7, maps to within 2 cM of D7S435 with a lod score of 12.15. Two point linkage analysis between these markers and adRP gave lod scores of 5.65 (theta = 0) and 4.19 (theta = 0.046) for D7S460 and D7S435, respectively. Multipoint analysis gave a maximum lod score of 8.22. These data strongly suggest a new adRP locus on chromosome 7p.

引用

页码：51 / 53

页数：3

共 25 条

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