X连锁眼白化病的基因定位：对一个纽芬兰大家族的连锁分析

Genetic mapping of X-linked ocular albinism: linkage analysis in a large Newfoundland kindred.

作者信息

Charles S J, Green J S, Moore A T, Barton D E, Yates J R

机构信息

Cambridge University, Department of Pathology, United Kingdom.

出版信息

Genomics. 1993 Apr;16(1):259-61. doi: 10.1006/geno.1993.1171.

DOI:10.1006/geno.1993.1171

PMID:8486368

Abstract

Genetic linkage studies in a large Newfoundland family affected by X-linked ocular albinism (OA1) showed linkage to markers from Xp22.3. One recombinant mapped the disease proximal to DXS143 (dic56) and two recombinants mapped the disease distal to DXS85 (782). Combining the data with that from 16 British families previously published confirmed close linkage between OA1 and DXS143 (dic56; Zmax = 21.96 at theta = 0.01, confidence interval (CI) 0.0005-0.05) and linkage to DXS85 (782; Zmax = 17.60 at theta = 0.07, CI = 0.03-0.13) and DXS237 (GMGX9; Zmax = 15.20 at theta = 0.08, CI = 0.03-0.15). Multipoint analysis (LINKMAP) gave the most likely order as Xpter-XG-DXS237-DXS 143-OA1-DXS85, with odds of 48:1 over the order Xpter-XG-DXS237-OA1-DXS143-DXS85, and odds exceeding 10(10):1 over other locations for the disease locus.

摘要

对一个患有X连锁眼部白化病（OA1）的纽芬兰大家族进行的基因连锁研究表明，该疾病与Xp22.3区域的标记物存在连锁关系。一个重组个体将疾病基因定位在DXS143（dic56）近端，两个重组个体将疾病基因定位在DXS85（782）远端。将这些数据与之前发表的16个英国家族的数据相结合，证实了OA1与DXS143（dic56；在θ = 0.01时Zmax = 21.96，置信区间（CI）为0.0005 - 0.05）紧密连锁，以及与DXS85（782；在θ = 0.07时Zmax = 17.60，CI = 0.03 - 0.13）和DXS237（GMGX9；在θ = 0.08时Zmax = 15.20，CI = 0.03 - 0.15）存在连锁关系。多点分析（LINKMAP）得出最可能的顺序为Xpter - XG - DXS237 - DXS143 - OA1 - DXS85，相对于顺序Xpter - XG - DXS237 - OA1 - DXS143 - DXS85的优势比为48:1，相对于疾病基因座的其他位置，优势比超过10(10):1。