遗传性对称性色素异常症2个新的致病基因突变检测

Two Novel Mutation of the DSRAD Gene with Dyschromatosis Symmetrica Hereditary

目的检测遗传性对称性色素异常症2家系中DSRAD基因的突变。方法收集陕西籍遗传性对称性色素异常症2个家系成员资料,提取外周血DNA,PCR扩增DSRAD基因的全部外显子,进行DNA测序,并以50例无关正常人作为对照。结果家系Ⅰ所有患者中8号外显子检测到一新的c.2858C>G(p.S886R)错义突变;家系Ⅱ所有患者中10号外显子检测到一新的c.3073A>G(p.H958R)错义突变。结论DSRAD基因的c.2858C>G和c.3073A>G错义突变可能为引起这两个家系患者临床表型的病因。

Objective To identify mutations of DSRAD gene in two Chinese family with dyschromatosis symmetrica hereditaria. Methods Genomic DNA was extracted from the patient＇s and 50 unrelated people＇s peripheral blood and used as a template for the polymerase chain reaction （PCR） amplification of all 15 exons of the DSRAD gene. We carried out mutation scanning by direct sequencing of PCR products. Results Two novel missense mutations （ c. 2858C 〉 G, c. 3073 A 〉 G） were identified in two families. Conclusion Mutations of c. 2858C 〉 G and c. 3073 A 〉 G of DSRAD gene may be the causes of the clinical phenotype in the two families.