[一个中国B型短指症家系中ROR2基因复发性突变的鉴定]
[Identification of a recurrent mutation in the ROR2 gene in a Chinese family with brachydactyly type B].
作者信息
Yang Wei, Tan Feng-qin, Sun Miao, Zeng Xuan, Liu Jie, Liu Guo-yang, Luo Hui-yuan, Zhang Xue
机构信息
Department of Medical Genetics and National Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Peking Union Medical College Chinese Academy of Medical Sciences, Beijing, PR China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 Feb;21(1):61-3.
OBJECTIVE
To identify the disease-causing mutation in a Chinese family with brachydactyly type B (BDB).
METHODS
Genomic DNA was extracted from peripheral blood samples of family members. Exons 8 and 9 of the ROR2 gene were amplified by polymerase chain reaction (PCR) and sequenced directly. Furthermore, the PCR products showing mutation were cloned into pMD18T vector and the insert fragments were sequenced.
RESULTS
A 1398-1399 insA heterozygous mutation was detected in the patient. This mutation had been found in German families with BDB.
CONCLUSION
To the authors' knowledge, it is the first report on identification of the ROR2 pathogenic mutation in Chinese patients with BDB.
目的
鉴定一个患有B型短指症（BDB）的中国家系中的致病突变。
方法
从家系成员的外周血样本中提取基因组DNA。通过聚合酶链反应（PCR）扩增ROR2基因的第8和第9外显子并直接测序。此外，将显示有突变的PCR产物克隆到pMD18T载体中，并对插入片段进行测序。
结果
在患者中检测到一个1398-1399insA杂合突变。该突变已在患有BDB的德国家系中发现。
结论
据作者所知，这是首次在中国BDB患者中鉴定出ROR2致病突变的报告。
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