全基因组扫描定位毛囊闭锁三联征致病基因

首都医科大学学报 ›› 2006, Vol. 27 ›› Issue (6): 703-706.

全基因组扫描定位毛囊闭锁三联征致病基因

高敏¹, 王培光¹, 崔勇¹, 杨森¹, 林达¹, 李卉¹, 杜文辉¹, 黄薇², 张学军¹

1. 安徽医科大学皮肤病研究所, 安徽医科大学第一附属医院皮肤科, 安徽省重要遗传病基因资源利用重点实验室;2. 国家人类基因组南方研究中心

收稿日期:2006-09-26 修回日期:1900-01-01 出版日期:2006-12-24 发布日期:2006-12-24
通讯作者: 张学军

Identification of the Follicular Occlusion Triad Susceptibility Locus by a Genome Wide Scan

Gao Min¹, Wang Peiguang¹, Cui Yong¹, Yang Sen¹, Lin Da¹, Li Hui¹, Du Wenhui¹, Huang Wei², Zhang Xuejun¹

1. Institute of Dermatology & Department of Dermatology, Anhui Medical University, The Key Lab of Gene Resource Utilization for Severe Hereditary Disease, The Key Lab of Gene Resource Utilization for Severe Hereditary Disease of Ministry of Education;2. Chinese National Human Genome Center

Received:2006-09-26 Revised:1900-01-01 Online:2006-12-24 Published:2006-12-24

摘要/Abstract

摘要： 目的在1例4代毛囊闭锁三联征大家系中定位其致病基因所在区域.方法用覆盖全基因组的微卫星标记对1例毛囊闭锁三联征大家系进行致病基因定位研究,用ABI3730测序仪进行微卫星标记的基因分型,利用Linkage软件(5.10 version)和Cyrillic软件(2.01 version)进行连锁和单倍型分析.结果该家系符合常染色体显性遗传模式,当外显率为99.9%时,在1号染色体上的微卫星标记D1S2624处获得最大LOD值为3.26(重组率θ=0.00).单倍型分析将该家系致病基因定位在微卫星标记D1S248和D1S2711之间的染色体1p21.1-1q25.3区域,遗传距离61.8 cM.结论染色体1p21.1-1q25.3区域存在毛囊闭锁三联征的致病基因.

关键词: 毛囊闭锁三联征, 基因定位, 连锁分析

Abstract: Objective To identify the locus for follicular occlusion triad in a four-generation Chinese family.Methods A genome-wide scan was performed with 400 microsatellite markers in a Chinese follicular occlusion triad family to map the chromosome locations of the susceptible gene.Two-point linkage analysis was performed using Linkage programs version 5.10 and haplotype was constructed with Cyrillic version 2.01.Results A locus was identified at chromosome 1p21.1-1q25.3 with a cumulative maximum two-point LOD score of 3.26 at microsatellite markers D1S2624(at recombination fraction=0.00).Haplotype analysis indicated that the candidate gene was located within 61.8 cM region between markers D1S248 and D1S2711.Conclusion Chromosome 1p21.1-1q25.3 contains the candidate gene susceptible for the follicular occlusion triad.

Key words: the follicular occlusion triad, gene mapping, linkage analysis

中图分类号:

高敏;王培光;崔勇;杨森;林达;李卉;杜文辉;黄薇;张学军. 全基因组扫描定位毛囊闭锁三联征致病基因[J]. 首都医科大学学报, 2006, 27(6): 703-706.

Gao Min;Wang Peiguang;Cui Yong;Yang Sen;Lin Da;Li Hui;Du Wenhui;Huang Wei;Zhang Xuejun. Identification of the Follicular Occlusion Triad Susceptibility Locus by a Genome Wide Scan[J]. Journal of Capital Medical University, 2006, 27(6): 703-706.