[对称性进行性色素异常症家系中ADAR1基因突变分析]
[Analysis of ADAR1 gene mutation in a pedigree affected with dyschromatosis symmetrical hereditaria].
作者信息
Zeng Rong, Wang Liwei, Hui Yun, He Yanyan, Cui Pangen, Xu Haoxiang, Li Min
机构信息
Institute of Dermatology, Chinese Academy of Medical Sciences & Peking Union Medical College, Nanjing, Jiangsu 210042, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Jun 10;35(3):393-396. doi: 10.3760/cma.j.issn.1003-9406.2018.03.019.
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.
目的
检测一个对称性进行性色素异常症（DSH）家系中作用于RNA1的腺苷脱氨酶（ADAR1）基因的突变情况。
方法
收集该家系患者的临床资料和外周血样本。通过聚合酶链反应（PCR）扩增和直接测序，在2例患者、2例家系中未患病个体以及50名无关健康对照中筛选ADAR1基因的潜在突变。
结果
在2例患者中鉴定出ADAR基因的一个c.3463C>T（p.R1155W）错义突变，2名健康亲属和50名无关对照中未发现该突变。该突变先前在5个中国家系中被鉴定出，是最常见的突变位点。
结论
ADAR基因的c.3463C>T错义突变可能是该家系疾病的病因。
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