X连锁眼部白化病的基因定位：英国家庭的连锁分析

Genetic mapping of X linked ocular albinism: linkage analysis in British families.

作者信息

Charles S J, Moore A T, Yates J R

机构信息

Department of Pathology, Cambridge University.

出版信息

J Med Genet. 1992 Aug;29(8):552-4. doi: 10.1136/jmg.29.8.552.

DOI:10.1136/jmg.29.8.552

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1016060/

Abstract

Genetic linkage studies were performed in 16 British families affected by X linked ocular albinism (XLOA) using RFLPs from the Xp22.3 region. Linkage was confirmed between the XLOA locus (OA1) and the loci DXS143 (dic56; Zmax = 15.90 at theta = 0.0, confidence interval (CI) 0-0.035), DXS85 (782; Zmax = 15.67 at theta = 0.04, CI = 0.007-0.11), and DXS237 (GMGX9; Zmax = 12.65 at theta = 0.08, CI = 0.03-0.17). Multipoint linkage analysis placed OA1 between DXS85 (782) and DXS237 (GMGX9) with odds exceeding 10(4):1 to give the map DXS85-(OA1,DXS143)-DXS237-XG-Xpter. OA1 lies close to DXS143 (dic56) but in the absence of recombinants the order of these loci could not be determined.

摘要

利用位于Xp22.3区域的限制性片段长度多态性（RFLP），对16个患有X连锁眼部白化病（XLOA）的英国家庭进行了遗传连锁研究。XLOA基因座（OA1）与基因座DXS143（dic56；在θ = 0.0时，Zmax = 15.90，置信区间（CI）为0 - 0.035）、DXS85（782；在θ = 0.04时，Zmax = 15.67，CI = 0.007 - 0.11）和DXS237（GMGX9；在θ = 0.08时，Zmax = 12.65，CI = 0.03 - 0.17）之间存在连锁关系得到确认。多点连锁分析将OA1定位在DXS85（782）和DXS237（GMGX9）之间，优势比超过10⁴:1，得到的图谱为DXS85 - (OA1, DXS143) - DXS237 - XG - Xpter。OA1靠近DXS143（dic56），但由于没有重组体，这些基因座的顺序无法确定。

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