对称性遗传性色素异常病:中国家系的DSRAD基因异常变异  

A novel mutation of the DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria

作　　者：马慧群 

出　　处：《世界核心医学期刊文摘（皮肤病学分册）》2005年第2期34-35,共2页Digest of the World Core Medical JOurnals:Dermatology

摘　　要：Dyschromatosis symmetrica hereditaria (DSH) is a pigmentary genodermatosis of autosomal dominant inheritance characterized by a mixture of hyperpigmented and hypopigmented macules distributed on the dorsal aspects of the hands and feet. It is caused by mutations of the RNA-specific adenosine deaminase gene. We report the identification of a Chinese family with a three-generation pedigree of DSH, in whom a novel tyrosine substitution mutation in DSRAD was demonstrated: a heterozygous nucleotide A →G transition at position 2879 in exon 10 of the DSRAD gene was detected.Dyschromatosis symmetrica hereditaria (DSH) is a pigmentary genodermatosis of autosomal dominant inheritance characterized by a mixture of hyperpigmented and hypopigmented macules distributed on the dorsal aspects of the hands and feet. It is caused by mutations of the RNA-specific adenosine deaminase gene. We report the identification of a Chinese family with a three-generation pedigree of DSH, in whom a novel tyrosine substitution mutation in DSRAD was demonstrated: a heterozygous nucleotide A →G transition at position 2879 in exon 10 of the DSRAD gene was detected.

关 键 词：色素异常 DSRAD基因 基因异常 遗传性皮肤病 色素减退斑 阿糖腺苷 色素性 脱氨基酶 背侧 色素沉着 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]