常染色体显性遗传性视网膜色素变性：将一个疾病基因（RP6）定位于6号染色体短臂。

Autosomal dominant retinitis pigmentosa: localization of a disease gene (RP6) to the short arm of chromosome 6.

作者信息

Farrar G J, Jordan S A, Kenna P, Humphries M M, Kumar-Singh R, McWilliam P, Allamand V, Sharp E, Humphries P

机构信息

Department of Genetics, Trinity College Dublin, Ireland.

出版信息

Genomics. 1991 Dec;11(4):870-4. doi: 10.1016/0888-7543(91)90009-4.

DOI:10.1016/0888-7543(91)90009-4

PMID:1783395

Abstract

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: theta = 0.10, Z = 3.338; D6S109: theta = 0.10, Z = 3.932; D6S105: theta = 0.00, Z = 6.081; HLA-DRA: theta = 0.00, Z = 4.364; and RDS: theta = 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) segregating 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.

摘要

对一个患有迟发性常染色体显性遗传性视网膜色素变性（ADRP）的爱尔兰家系成员的DNA，用来自6号染色体短臂的一系列遗传标记进行了分型。用五个标记获得了阳性两点连锁值（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；以及RDS：θ = 0.00，Z = 5.376）。在一系列重叠的多点分析中，获得了6.6的连锁值，在HLA - DRA处达到最大值，因此将此家系中分离的ADRP基因（RP5）定位于6号染色体短臂。这些数据为另一个常染色体显性视网膜色素变性基因座提供了直接证据，并有力地表明人类的小鼠视网膜变性慢（rds）基因的对应物，外周蛋白 - rds，是常染色体显性遗传性视网膜色素变性的一个候选基因。