遗传性对称性色素异常症一家系基因突变分析

Mutation analysis of DSRAD gene in family with Dyschromatosis Symmetrica Hereditaria

目的研究发现一家系遗传性对称性色素异常症的致病基因突变情况。方法收集临床患者家系成员血样并抽提基因组DNA,通过PCR及突变检测致病基因的方法,分析基因的突变位点。结果该家系患者DSRAD基因12号外显子发生基因突变,表现为第2887位G缺失。结论该遗传性对称性色素异常症家系患者中存在致病基因突变,表现为碱基缺失。

Objective To analyze the gene mutation of DSRAD in a family with DSH. Methods The whole blood samples from a family with DSH were collected, and then sequence by PCR. The mutation of DSRAD gene was detected by Single Strand Conformation Polymorphism analysis. Results The data showed that the mutation of DSRAD gene in the family was occurred in the 12th exon, which was haracterized by G deletion at point of 2887. Conclusions The mutation in 12th exon of DSRAD gene may result in DSH in the family.