遗传 ›› 2011, Vol. 33 ›› Issue (2): 147-152.doi: 10.3724/SP.J.1005.2011.00147

• 研究报告 • 上一篇    下一篇

一个中国B1型短指家系致病基因的突变分析

李聪敏1,王凤羽1,孙伟伟2,韩淑丽3,常明秀1,丰慧根2   

  1. 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
  • 收稿日期:2010-07-06 修回日期:2010-09-03 出版日期:2011-02-20 发布日期:2011-02-25
  • 通讯作者: 常明秀 E-mail:changmingxiu@163.com
  • 基金资助:

    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

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

LI Cong-Min1, WANG Feng-Yu1, SUN Wei-Wei2, HAN Shu-Li3, CHANG Ming-Xiu1, FENG Hui-Gen2   

  1. 1. Henan Provincial Research Institute of Population and Family Planning, Henan Key Laboratory of Intervention Technology for Birth Defects, Zhengzhou 450002, China ;
    2. Department of Life Science and Technology, Xinxiang Medical College, Xinxiang
    453000, China 3. Service Station of Family Planning in Huaxian of Henan, Huaxian 456400, China
  • Received:2010-07-06 Revised:2010-09-03 Online:2011-02-20 Published:2011-02-25
  • Contact: CHANG Ming-Xiu E-mail:changmingxiu@163.com

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。

关键词: B1型短指, ROR2基因, p.Y755X, ROR2蛋白

Abstract: 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 of ROR2 gene was amplified by polymerase chain reaction (PCR) and sequenced directly. A c.2265C>A heterozygous mutation 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 individuals 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 BDB1 in China, which enriches ROR2 gene mutation spectrum in Chinese with BDB1.

Key words: Brachydactyly type B1, ROR2 gene, p.Y755X, ROR2 protein