遗传性对称性色素异常症三家系ADAR1基因突变检测

Mutationa analysis of the ADAR1 gene in three Chinese families with dyschromatosis symmetrica hereditaria

目的探讨3个遗传性对称性色素异常症家系中ADARl基因的突变情况。方法收集血样，用PCR结合DNA直接测序的方法，检测3个家系中的患者、患者亲属及与家系无关的50例健康个体的ADARl基因突变情况。结果所研究的3个家系中均存在ADARl基因的异常。包括A及C家系中2个错义突变（c．1760A〉G导致p．Y587C，c．3620G〉T导致p．G1207V），B家系中1个移码突变（c．2433—2434de—lAG）。3个家系中未患病个体和健康对照均未发现相应突变。结论3个ADARl基因突变中，2个错义突变均为新突变，可能是导致遗传性对称性色素异常症发病的分子机制之一。

Objective To detect mutations of the ADAR1 gene in three Chinese families with dyschromatosis symmetrica hereditaria （DSH）. Methods DNA was extracted from the blood samples of seven patients with DSH and their 33 relatives in three families with DSH as well as from 50 unrelated healthy controls. PCR and direct sequencing were performed to detect mutations in the ADAR1 gene. Results All the patients carried mutations in the ADAR1 gene. Three mutations were identified, including one frameshift mutation c.2433-2434delAG in family 2 and two missense mutations, i.e., c.1760A 〉 G （p.Y587C） in family 1 and c.3620G 〉 T （p.G1207V） in family 3. No mutations were found in the ADAR1 gene in unaffected individuals in these families or the healthy controls. Conclusion Two novel missense mutations are found in the ADAR1 gene of two Chinese families, which may represent a molecular mechanism underlying the development of DSH.