一个中国B1型短指家系致病基因的突变分析  

Mutation analysis of the pathogenic gene in a Chinese family with Brachydactyly type B1

作　　者：李聪敏 王凤羽 孙伟伟[2] 韩淑丽[3] 常明秀 丰慧根[2] 

机构地区：[1]河南省人口和计划生育科学技术研究院,河南省人口出生缺陷干预技术研究重点实验室,郑州450002 [2]新乡医学院生命科学技术系,新乡453000 [3]河南省滑县计划生育服务站,滑县456400

出　　处：《遗传》2011年第2期147-152,共6页Hereditas（Beijing)

基　　金：河南省社会公益重大项目“常见重大出生缺陷和遗传病综合优化干预研究及应用”(编号:081100911100)资助

摘　　要：文章收集了一个中国B1型短指家系,通过连锁分析,发现该家系疾病的致病基因与ROR2基因连锁。PCR扩增ROR2基因突变热点区域后直接测序,在家系患者中发现一个c.2265C>A的杂合突变,该突变在蛋白质水平导致p.Y755X的改变,从而产生缺失部分结构域的截短ROR2蛋白,而在家系正常人以及家系外正常人中均未发现此突变。文章是国内首次报道B1型短指家系ROR2基因c.2265C>A突变,丰富了中国人ROR2基因突变谱。We identified and characterized a Chinese family with autosomal dominant Brachydactyly type B1 （BDB1）. Linkage analysis revealed that the disease gene of the Chinese BDB1 family was linked to ROR2 locus. Mutational hot spot ofROR2 gene was amplified by polymerase chain reaction （PCR） and sequenced directly. A c.2265C〉A heterozygous mu- tation was detected in all of the patients. This mutation led to the change of p.Y755X in protein level and a truncated ROR2 protein losing integrant domains was generated. The mutation was detected in all the patients, but not in all the normal indi- viduals of this family and 50 normal controls. This paper for the first time reported a c.2265C〉A mutation in ROR2 gene of a family with BDB 1 in China, which enriches ROR2 gene mutation spectrum in Chinese with BDB 1.

关 键 词：B1型短指 ROR2基因 p.Y755X ROR2蛋白 

分 类 号：Q987[生物学—遗传学]