错义突变
遗传学
外胚层发育不良
突变
生物
牙缺失
掌跖角化病
基因型
基因
医学
牙科
作者
Mousumi Tania,Zhimin Xiong,Lina Lu,Shuanglin Liu,Kun Xia,Zhengmao Hu
出处
期刊:PubMed
日期:2013-08-01
卷期号:38 (8): 761-5
被引量:3
标识
DOI:10.3969/j.issn.1672-7347.2013.08.001
摘要
Mutation in the gap junction beta 6 (GJB6) gene has been reported to be associated with an autosomal dominant disorder hidrotic ectodermal dysplasia (HED), characterized by congenital nail clubbing, alopecia and palmoplantar keratoderma. The aim of this study is to investigate relationship between genetic mutation in GJB6 and HED in an affected Chinese family.We selected a Chinese HED family consisting of a total of 17 individuals including 8 HED patients (5 males and 3 females). The whole coding region of GJB6 was amplified by polymerase chain reaction and sequenced.Sequence analysis identified a heterozygous missense mutation c.31G>A (p.G11R) in GJB6 gene of affected individuals, but not in healthy individuals.A c.31G>A (p.G11R) missense mutation in GJB6 gene is the genotypic characteristic for HED in Chinese population.
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