中国人遗传性B型短指(趾)家系中ROR2基因突变的鉴定  

Identification of a recurrent mutation in the ROR2gene in a Chinese family with brachydactyly type B

作　　者：杨威[1] 谭凤钦 孙淼[1] 曾瑄[1] 刘杰 刘国仰[1] 罗会元[1] 张学[1] 

机构地区：[1]中国医学科学院中国协和医科大学基础医学研究所医学遗传学系医学分子生物学国家重点实验室,北京100005 [2]河北省计划生育研究所

出　　处：《中华医学遗传学杂志》2004年第1期61-63,共3页Chinese Journal of Medical Genetics

基　　金：国家高技术研究发展计划 (2 0 0 1 AA2 2 1 1 0 1和2 0 0 2 BA71 1 A0 7- 0 9)~~

摘　　要：目的　确定一个中国人 B型短指 (趾 )家系中是否存在 ROR2基因突变。方法　从一个中国人B型短指 (趾 )家系的患者外周血中提取基因组 DNA,PCR扩增 ROR2基因外显子 8和部分外显子 9,PCR产物直接测序 ;同时进行 PCR产物 TA克隆和插入片段测序。结果　在患者中发现 ROR2基因第 9外显子1398～ 1399ins A杂合突变 ,与国外发现的致病性突变一致。结论　本文首次报告中国人 B型短指 (趾 )中的 ROR2基因突变。ObjectiveTo identify the disease-causing mutation in a Chinese family with brachydactyly type B (BDB). MethodsGenomic DNA was extracted from peripheral blood samples of family members. Exons 8 and 9 of theROR2 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. ResultsA 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 theROR2 pathogenic mutation in Chinese patients with BDB.

关 键 词：中国人 遗传性B型短指(趾) 家系 ROR2基因 突变 鉴定 

分 类 号：R596.1[医药卫生—内科学]