中文摘要：

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COLlAl基因mRNA的表达，根据COLlAl基因转录调控区-1031 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COLlAl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COLlAl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。

英文摘要：

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.