一个遗传性对称性色素异常症家系ADAR1基因的突变分析

Analysis of ADAR1 gene mutation in a pedigree affected with dyschromatosis symmetrical hereditaria

目的检测一个中国汉族遗传性对称性色素异常症（dyschromatosis symmetrical hereditaria，DSH）家系患者ADAR1基因突变。方法收集家系成员的临床资料和血样，PCR扩增ADAR1基因所有编码区并进行测序，分别检测家系中2例患者和2名正常人的突变情况，并选取50名与本家系无关的正常人作为对照；同时检索文献中已报道的有关该病ADAR1基因的突变情况。结果该家系中2例患者均存在ADAR1基因错义突变（C．3463C〉T），导致P．R1155W改变，家另外2名未患病的家系成员和50名健康对照均未发现上述突变。检索文献发现，该位点突变导致该病的已有5个家系报道，这是目前发现突变位点最高的基因。结论ADAR1基因C．3463C〉T错义突变是导致该家系发生DSH的致病性突变，也是目前已知的该基因的热点突变位点。

Objective To detect mutation of adenosine deaminase acting on RNA1 （ADAR1） gene in a pedigree affected with dyschromatosis symmetrical hereditaria （DSH）. Methods Clinical data and peripheral blood samples of the patients from the pedigree were collected. Potential mutations of the ADAR1 gene were screened among 2 patients, 2 unaffected individual from the pedigree as well as 50 unrelated healthy controls by PCR amplification and direct sequencing. Results A c. 3463C〉 T （p. R1155W） missense mutation of the ADAR gene was identified in the 2 patients, which was absent in the 2 healthy relatives and 50 unrelated controls. The mutation, has been previously identified among 5 Chinese families and was the most common mutation site. Conclusion The c. 3463C〉T missense mutation of the ADAR gene probably underlies the disease in this pedigree.