一个遗传性对称性色素异常症家系ADAR1基因R1155W突变研究

The c. 3463C〉T mutation of the ADAR1 gene in patients with dyschromatosis symmetrical hereditaria

目的研究1个遗传性对称性色素异常症家系的ADAR1基因的突变。方法收集1个遗传性对称性色素异常症家系的血样，采用聚合酶链反应结合DNA直接测序的方法，检测了该家系中2例患者及2名表型正常者和50名无亲缘关系健康个体的ADARj基因突变情况。结果该家系中2例患者均存在ADAR1基因c．3463C〉T突变，导致p．R1155W改变，而在家系内非患者及正常对照者中均未发现该突变。结论本研究中遗传性对称性色素异常症家系中患者ADAR1基因存在错义突变，这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 analyze the mutation of the adenosine deaminase acting on RNA 1 （ADAR1） gene in a pedigree with dyschromatosis symmetrical hereditaria （DSH）. Methods Mutation analysis of the ADAR1 gene was carried out by PCR and direct DNA sequencing in the DSH family, as well as in 50 unrelated healthy controls. Results A missense mutation of e. 3463C〉T, which results in p. Rl155W in the ADAR1 protein, was found in the 2 patients, but was absent in the 2 healthy members in the family and 50 unrelated individuals. Conclusion A missense mutation of c. 3463C〉T in the ADAR1 gene was detected in the DSH family, which is likely responsible for the pathogenesis of the disease.