遗传 ›› 2008, Vol. 30 ›› Issue (6): 723-727.doi: 10.3724/SP.J.1005.2008.00723

• 研究报告 • 上一篇    下一篇

COL1A1基因转录调控序列变异与单纯性马蹄内翻足的相关性

赵宁;金春莲;刘丽英;曹东华;林长坤;吉士俊;孙开来   

  1. 中国医科大学医学遗传学教研室, 沈阳 110001

  • 收稿日期:2007-10-29 修回日期:2008-02-20 出版日期:2008-06-10 发布日期:2008-06-10
  • 通讯作者: 金春莲

Association study between mutations of transcription regulator sequences of COL1A1 gene and idiopathic con-genital talipes equinovarus

ZHAO Ning;JIN Chun-Lian;LIU Li-Ying;CAO Dong-Hua;LIN Chang-Kun;JI Shi-Jun;SUN Kai-Lai

  

  1. Department of Medical Genetics, China Medical University, Shenyang 110001, China
  • Received:2007-10-29 Revised:2008-02-20 Online:2008-06-10 Published:2008-06-10
  • Contact: JIN Chun-Lian

摘要:

采用半定量RT-PCR方法检测20例单纯性马蹄内翻足患儿下肢肌肉及肌腱组织中COL1A1基因mRNA的表达, 根据COL1A1基因转录调控区-1 031 bp~ +30 bp及第1内含子的序列, 设计8对引物, PCR扩增后, 采用变性梯度凝胶电泳技术筛查突变并测序。半定量RT-PCR结果表明, 与正常对照组相比, 单纯性马蹄内翻足患儿患侧肌肉及肌腱组织中COL1A1基因表达水平明显上调(t =12.680, P<0.05); 经PCR-DGGE筛查并测序发现1名患者存在-161(C→T)的杂合变异, 另1名患者存在+274(C→G)的纯合变异。二者均为新发现的变异。提示COL1A1基因转录调控序列变异可能是单纯性马蹄内翻足的致病原因之一。

关键词: 单纯性马蹄内翻足, COL1A1基因, 基因变异, 反转录聚合酶链反应, 变性梯度凝胶电泳

Abstract:

RT-PCR was used to detect the expressions of COL1A1 mRNA in 20 patients with idiopathic congenital talipes equinovarus (ICTEV). The primers were designed by Primer 5 according to sequences of -1 031 bp~ +30 bp and the first intron of COL1A1. PCR-DGGE was used to screen the mutations in COL1A1 gene. Expression of COL1A1 on mRNA levels showed significantly higher in patients with ICTEV than in normal persons (t=12.680, P < 0.05). By DNA sequencing, a -161(T→ C) heterozygous mutation and a+ 274(C→G) homozygous mutation were detected, and both were new identified mutations. These results indicated that the mutations in transcription regulator sequences of COL1A1 could cause ICTEV.