常染色体显性遗传性少毛症分子遗传学研究进展  

Update of autosomal dominant hereditary hypotrichosis

作　　者：黄鹤群[1] 汤华阳[1] 孙良丹[1] 陈梦云[1] 徐明贵[1] 许奕荟 许静凯 张学军[1] 

机构地区：[1]安徽医科大学皮肤病研究所,合肥230000

出　　处：《中国麻风皮肤病杂志》2017年第8期502-505,共4页China Journal of Leprosy and Skin Diseases

基　　金：国家高层次人才特殊支持计划项目(编号:2013-33)

摘　　要：遗传性少毛症是一种表现为毛发永久性部分或完全缺失的单基因遗传性疾病,按遗传异质性分为常染色体显性遗传、常染色体隐性遗传、X连锁显性遗传、X连锁隐性遗传。本文重点介绍常染色体显性遗传性少毛症的各种亚型:遗传性单纯性头皮性少毛症(HSS)、遗传性单纯性少毛症(HHS)、Marie Unna型少毛症(MUHH)、常染色体显性羊毛状发(ADWH)、生长期毛发松动综合征(LAHS)等分子遗传学研究进展。Hereditary hypotrichosis is a single gene genetic disease and the manifestation is partial or total hair loss permanently. According to the hereditary model,hereditary hypotrichosis includes the autosomal dominant,autosomal recessive,X-linked dominant and X-linked recessive hereditary hypotrichosis. This article focuses on the update of autosomal dominant hereditary hair less,including various subtypes,hypotrichosis simplex of scalp,hereditary hypotrichosis simplex,marie Unna hereditary hypotrichosis,autosomal dominant woolly hair and loose anagen hair syndrome.

关 键 词：少毛症 突变位点 分子遗传 

分 类 号：R758.71[医药卫生—皮肤病学与性病学]