AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA - LOCALIZATION OF A DISEASE GENE (RP6) TO THE SHORT ARM OF CHROMOSOME-6

被引：49

作者：

FARRAR, GJ ^{[1
]}

JORDAN, SA ^{[1
]}

KENNA, P ^{[1
]}

HUMPHRIES, MM ^{[1
]}

KUMARSINGH, R ^{[1
]}

MCWILLIAM, P ^{[1
]}

ALLAMAND, V ^{[1
]}

SHARP, E ^{[1
]}

HUMPHRIES, P ^{[1
]}

机构：

[1] UNIV DUBLIN TRINITY COLL,DEPT GENET,DUBLIN 2,IRELAND

来源：

GENOMICS | 1991年 / 11卷 / 04期

基金：

英国惠康基金;

关键词：

D O I：

10.1016/0888-7543(91)90009-4

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

DNA from members of an Irish pedigree presenting with late onset autosomal dominant retinitis pigmentosa (ADRP) have been typed with a series of genetic markers from chromosome 6p. Positive two-point lod scores have been obtained with five markers (D6S89: θ = 0.10, Z = 3.338; D6S109: θ = 0.10, Z = 3.932; D6S105: θ = 0.00, Z = 6.081; HLA-DRA: θ = 0.00, Z = 4.364; and RDS: θ = 0.00, Z = 5.376). In a series of overlapping multipoint analyses a lod score of 6.6 was obtained, maximizing at HLA-DRA and hence localizing the ADRP gene (RP5) segregrating in this pedigree to 6p. These data provide direct evidence for an additional autosomal dominant RP locus and strongly implicate the human equivalent of the mouse retinal degeneration slow (rds) gene, peripherin-rds, as a candidate for autosomal dominant retinitis pigmentosa. © 1991.

引用

页码：870 / 874

页数：5

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