青少年X连锁视网膜劈裂症的精细基因定位

Refined genetic mapping of juvenile X-linked retinoschisis.

作者信息

Pawar H, Bingham E L, Lunetta K L, Segal M, Richards J E, Boehnke M, Sieving P A

机构信息

Department of Ophthalmology, University of Michigan, Ann Arbor, USA.

出版信息

Hum Hered. 1995 Jul-Aug;45(4):206-10. doi: 10.1159/000154290.

DOI:10.1159/000154290

PMID:7558052

Abstract

Juvenile X-linked retinoschisis (RS) is an eye disease that causes acuity reduction and peripheral visual field loss typically beginning early in life. In further work towards positional cloning of the RS gene, we restudied our previously reported seven large American families and one additional new family, with a total of 63 affected males. RS linkage analysis using microsatellite repeat markers gave the following results: DXS207 (Z = 24.89, theta = 0.01), DXS987 (Z = 24.04, theta 0.01) and DXS999 (Z = 14.70, theta = 0.00). Recombination events in four individuals were studied further with additional markers (AFM291wf5, DXS443, DXS1052, DXS274 and DXS1226), and a flanking interval was obtained (DXS43, DXS207, DXS987)-RS-(AFM291wf5, DXS443). This study moves the RS centromeric boundary to (AFM291wf5, DXS443), about 5.5 cM closer than the previously reported boundary at DXS274 and narrows the RS inclusion interval to about 3.7 cM (using distances from CEPH family data).

摘要

青少年性连锁视网膜劈裂症（RS）是一种眼部疾病，通常在生命早期就会导致视力下降和周边视野缺损。在进一步开展RS基因定位克隆的工作中，我们重新研究了之前报道的7个美国家系以及另外1个新的家系，共有63名患病男性。使用微卫星重复标记进行的RS连锁分析得出了以下结果：DXS207（Z = 24.89，θ = 0.01）、DXS987（Z = 24.04，θ = 0.01）和DXS999（Z = 14.70，θ = 0.00）。利用额外的标记（AFM291wf5、DXS443、DXS1052、DXS274和DXS1226）对4名个体中的重组事件进行了进一步研究，并获得了一个侧翼区间（DXS43、DXS207、DXS987）-RS-（AFM291wf5、DXS443）。这项研究将RS的着丝粒边界移至（AFM291wf5、DXS443），比之前报道的位于DXS274的边界靠近了约5.5厘摩，并将RS的包含区间缩小至约3.7厘摩（使用来自CEPH家系数据的距离）。