中华皮肤科杂志 ›› 2005, Vol. 38 ›› Issue (10): 604-607.

• 论著 • 上一篇    下一篇

Marie Unna遗传性稀毛症的遗传异质性

林国书, 杨青, 张学军, 严开林, 何平平, 李明, 梁燕华, 杨森   

  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 合肥 230022
  • 收稿日期:2004-10-04 发布日期:2005-10-15

The Genetic Heterogeneity of Marie Unna Hereditary Hypotrichosis

UN Guo-shu, YANG Qing, ZHANG Xue-jun, YAN Kai-lin, HE Ping-ping, LI Ming, LIANG Yan-hua, YANG Sen   

  • Received:2004-10-04 Published:2005-10-15

赞

摘要： 目的 对中国汉族人Marie Unna遗传性稀毛症进行基因组精细定位,从而为进一步找到该病的致病基因奠定基础。方法 用覆盖8p21的18个微卫星标记对2个家系进行局部基因组扫描,利用Linkage软件(5.10版)和Cyrillic软件(2.02版)进行连锁和单倍型分析。结果 家系1在常染色体显性遗传模式、外显率为99.9%时,在8号染色体上的微卫星标记D8S298和D8S1725处获得LODS(连锁分数)为3.01(θ=0.00);单倍型分析将其定位于D8S282～D8S1839之间的1.1cM内。家系2的连锁分析排除与8p21连锁。结论 Marie Unna遗传性稀毛症存在遗传异质性。

关键词: 稀毛症, 连锁(遗传学), 单倍性, 遗传异质性

Abstract: Objective To refine the Marie Unna hereditary hypotrichosis (MUHH) locus to a narrow chromosome region and to make the gene cloning feasible. Methods Genotyping and linkage analysis were performed in two multi-generation Chinese families with high-density microsatellite markers spanning the previously mapped interval at 8p21. Results In pedigree 1, significant evidence for linkage was observed in this region with a maximum two-point lod score of 3.01 (θ=0). Haplotype analysis localized the MUHH locus within the region defined by D8S282 and D8S1839. But the linkage between the MUHH phenotype and the locus at 8p21 was excluded in the other family. Conclusion This study provides the evidence of genetic heterogeneity in MUHH.

Key words: Hypolriehosis, Linkage (Genelics), Haploicly, Genetic heleiogeneity