全基因组扫描定位遗传性对称性色素异常症易感区域

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.

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

Objective To identify a locus for hereditary symmetrical dyschromatosis(HSD).Methods A genome-wide scan was performed with 402 microsatellite 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(Version 2.01)were used for linkage and haplotype analysis.Results A locus was identified at chro-mosome 1q11-1q21 with a cumulative maximum two-point LOD score of 8.85 at microsatellite marker D1S2343(θ=0.00).Haplotype analysis indicated that the candidate gene was located within 11.6 cM region between markers D1S2696 and 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.