COL1A1基因转录调控序列变异与单纯性马蹄内翻足的相关性  

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

作　　者：赵宁[1] 金春莲[1] 刘丽英[1] 曹东华[1] 林长坤[1] 吉士俊[1] 孙开来[1] 

机构地区：[1]中国医科大学医学遗传学教研室,沈阳110001

出　　处：《遗传》2008年第6期723-727,共5页Hereditas（Beijing)

基　　金：国家自然科学基金(编号:30471803);国家重点基础研究发展规划项目(编号:2001CB510301)资助~~

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-1031bp～+30bp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。RT-PCR was used to detect the expressions of COLlAl 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 COLlAl. PCR-DGGE was used to screen the mutations in COLlAl gene. Expression of COLlAl 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 COLlAl could cause ICTEV.

关 键 词：单纯性马蹄内翻足 COLlAl基因 反转录聚合酶链反应 基因变异 变性梯度凝胶电泳 

分 类 号：R726.8[医药卫生—儿科]