将一个与X连锁不完全先天性静止性夜盲相关的基因定位于Xp11.23区域中DXS6849和DXS8023之间的区间。

Localization of a gene for incomplete X-linked congenital stationary night blindness to the interval between DXS6849 and DXS8023 in Xp11.23.

作者信息

Bech-Hansen N T, Boycott K M, Gratton K J, Ross D A, Field L L, Pearce W G

机构信息

Department of Medical Genetics, Faculty of Medicine, University of Calgary, Alberta, Canada.

出版信息

Hum Genet. 1998 Aug;103(2):124-30. doi: 10.1007/s004390050794.

DOI:10.1007/s004390050794

PMID:9760193

Abstract

Congenital stationary night blindness (CSNB) is a nonprogressive retinal disorder characterized by night blindness, nystagmus, myopia, a variable decrease in visual acuity, an abnormal electroretinographic response, and a disturbance in dark adaptation. Two forms of X-linked CSNB have been defined, complete CSNB in which rod function is extinguished, and incomplete CSNB in which rod function is reduced but not extinguished, as seen by electroretinography and dark adaptometry. In studying a large family of Mennonite ancestry, we have confirmed linkage between the locus (CSNB2) for incomplete CSNB and genetic markers in the Xp11 region. In particular, lod scores of 12.25 and 15.26 at zero recombination were observed between CSNB2 and the markers DXS573 and DXS255. Detailed analysis of critical recombinant chromosomes in this extended family have refined the minimal region for the CSNB2 locus to the interval between DXS6849 and DXS8023 in Xp11.23.

摘要

先天性静止性夜盲症（CSNB）是一种非进行性视网膜疾病，其特征为夜盲、眼球震颤、近视、视力不同程度下降、视网膜电图反应异常以及暗适应障碍。已定义了两种X连锁型CSNB，即完全性CSNB（视网膜电图和暗适应测量显示杆状细胞功能消失）和不完全性CSNB（杆状细胞功能降低但未消失）。在对一个门诺派血统的大家庭进行研究时，我们证实了不完全性CSNB的基因座（CSNB2）与Xp11区域的遗传标记之间存在连锁关系。特别是，在CSNB2与标记DXS573和DXS255之间，零重组时的连锁值分别为12.25和15.26。对这个大家庭中关键重组染色体的详细分析，已将CSNB2基因座的最小区域精确定位到Xp11.23中DXS6849和DXS8023之间的区间。