一个遗传性对称性色素异常症大家系基因突变检测

Detection of Mutation in ADAR1 Gene in a large Pedigree with dyschromatosis symmetrical hereditaria

目的检测一个遗传性对称性色素异常症家系中ADAR1基因突变位点。方法收集该家系成员的外周静脉血,PCR扩增ADAR1全部外显子后直接Sanger法测序进行突变检测。结果该家系中的患者均存在A-DAR1基因中第3169位碱基C发生了缺失,可导致1057位后的氨基酸产生移码突变,并产生提前终止密码子,而在该家系的正常成员和100例正常人对照中则没有该突变。结论 ADAR1基因的移码突变c.3169delC(p.L1057fs)是该DSH家系的致病突变位点。

Objective To test the mutation of ADAR1 gene in a large Chinese family with dyschromatosis symmetrica hereditaria （DSH）. Methods Blood samples of the family members were collected. The whole coding region of A- DAR1 gene was amplified by polymerase chain reaction and PCR products were analyzed by Sanger sequencing. Results Aheterozygous deletion at the position of 3169 was identified in all patients, which leading toa frameshift mutation with the change of amino acids from 1057 （ p. L1057fs）. Conclusions The data suggest that c. 3169delC （ p. L1057fs） frameskift mutation is thepatkogeuic gene of the DSH family.