Liu Yan, Xiao Shengxiang, Peng Zhenhui, Chu Yonglie, Wang Junmin, Li Xiaoli, Zhou Shaona
Department of Dermatology, Second Hospital, Xi'an Jiaotong University, Xi'an, PR China.
Dermatology. 2006;213(3):200-3. doi: 10.1159/000095036.
Dyschromatosis symmetrica hereditaria (DSH) is a pigmentary genodermatosis characterized by a mixture of hyperpigmented and hypopigmented macules localized on the back of the extremities and caused by mutations in the double-stranded RNA-specific adenosine deaminase (DSRAD) gene.
To identify gene mutations of DSRAD in patients with DSH.
A Chinese pedigree of typical DSH was subjected to mutation detection in DSRAD. Direct sequencing of all PCR products of the whole coding regions of DSRAD was performed to identify the mutation.
A missense mutation 2747G-->T in the DSRAD gene was found in the affected members but not in the healthy individuals in this family and in 50 unrelated controls.
Our study found a novel missense mutation in exon 9 of the DSRAD gene. We add new variants to the knowledge of DSRAD mutations in DSH.
对称性进行性色素异常症（DSH）是一种色素性基因皮肤病，其特征为位于四肢背部的色素沉着斑和色素减退斑混合出现，由双链RNA特异性腺苷脱氨酶（DSRAD）基因突变引起。
鉴定DSH患者中DSRAD的基因突变。
对一个典型DSH的中国家系进行DSRAD基因突变检测。对DSRAD整个编码区的所有PCR产物进行直接测序以鉴定突变。
在该家系的患病成员中发现了DSRAD基因的一个错义突变2747G→T，而在健康个体及50名无关对照中未发现。
我们的研究在DSRAD基因第9外显子中发现了一个新的错义突变。我们为DSH中DSRAD突变的知识增添了新的变异。
