遗传性对称性色素异常症一家系中ADAR1基因突变的检测
[Detection of ADAR1 gene mutation in a family with dyschromatosis symmetrica hereditaria].
作者信息
Chang Xiaoli, Ci Chao, Wang Jun, Hang Shouyun, Ji Bihua
机构信息
Department of Dermatology, Yijishan Hospital, Wannan Medical College, Wuhu, Anhui 241001, P.R.China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Jun;32(3):367-9. doi: 10.3760/cma.j.issn.1003-9406.2015.03.014.
OBJECTIVE
To detect mutation of ADAR1 gene in a family affected with dyschromatosis symmetrica hereditaria.
METHODS
Clinical data and blood samples of the family were collected. Potential mutation of the ADAR1 gene were scanned in 3 patients and 3 unaffected members by PCR amplification and direct sequencing. The coding sequences of the ADAR1 were also screened in 50 normal controls.
RESULTS
A frameshift mutation (c.2252insG) of the ADAR1 gene was identified in all of the 3 patients. The same mutation was not found in the 3 unaffected members and 50 normal cases.
CONCLUSION
The frameshift mutation of ADAR1 gene (c.2252insG) is probably responsible for the disease in this family.
目的
检测一个遗传性对称性色素异常症家系中ADAR1基因的突变情况。
方法
收集该家系的临床资料和血液样本。通过聚合酶链反应（PCR）扩增和直接测序，对3例患者和3名未患病成员进行ADAR1基因潜在突变的扫描。同时也对50名正常对照者的ADAR1编码序列进行筛查。
结果
在所有3例患者中均鉴定出ADAR1基因的一个移码突变（c.2252insG）。在3名未患病成员和50例正常对照中未发现相同突变。
结论
ADAR1基因的移码突变（c.2252insG）可能是该家系疾病的致病原因。
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