全基因组扫描定位遗传性对称性色素异常症易感区域  

Identification of Hereditary Symmetrical Dyschromatosis Susceptibility Locus by Genome-wide Scan

作　　者：高敏[1] 张学军[1] 李明[1] 李诚让[1] 崔勇[1] 何平平[1] 李明 袁文涛 徐世杰 杨森[1] 黄薇 

机构地区：[1]安徽医科大学皮肤病研究所 [2]国家人类基因组南方研究中心

出　　处：《中华皮肤科杂志》2003年第12期675-678,共4页Chinese Journal of Dermatology

基　　金：国家自然科学基金资助课题(30170529)

摘　　要：目的确定遗传性对称性色素异常症易感区域。方法用覆盖全基因组22条常染色体的402个微卫星标记对2个遗传性对称性色素异常症大家系进行全基因组扫描,利用Linkage软件(5.10Version)和Cyrillic软件(2.01Version)进行连锁和单倍型分析。结果常染色体显性遗传模式,外显率为100%时,在1号染色体上的微卫星标记D1S2343处获得最大累积LOD积分为8.85(重组率θ=0.00),其相邻2个标记D1S2696和D1S2345处的最大累积LOD积分分别为4.60(重组率θ=0.10)和8.54(重组率θ=0.00)。单倍型分析将易感区域缩小至D1S2696和D1S2635之间11.6cM处。结论染色体1q11-1q21区域存在遗传性对称性色素异常症易感基因。Objective To identify a locus for hereditary symmetrical dyschromatosis(HSD).Methods A genome-wide scan was performed with402microsatellite markers in two large Chinese HSD families to map the chromosome location of the susceptible gene.The LINKAGE software(Version5.10)and CYRILLIC soft-ware(Version2.01)were used for linkage and haplotype analysis.Results A locus was identified at chro-mosome1q11-1q21with a cumulative maximum two-point LOD score of8.85at microsatellite marker D1S2343(θ=0.00).Haplotype analysis indicated that the candidate gene was located within11.6cM region between markers D1S2696and D1S2635.This was the first locus identified for HSD.This study provided a map location for isolation of the candidate genes causing HSD.Conclusion Chromosome1q11-1q21contains the candidate gene susceptible for dyschromatosis symmetrica hereditaria.

关 键 词：遗传性对称性色素异常症 全基因组 常染色体显性遗传 易感基因 家系 单倍型 1号染色体 重组率 微卫星标记 累积 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]