Pitxl基因突变与先天性马蹄内翻足的相关性研究

The correlation between Paired-like homeodomainl （PITX1） gene mutation and congenital talipes equino- varus

目的研究Pitxl基因突变与先天性马蹄内翻足之间的相关性。方法采用RT-PCR方法检测89例患儿腓肠肌组织的Pitxl基因，其中先天性马蹄内翻足患儿55例，正常对照组34例。PCR扩增后，将所有Pitxl基因进行基因测序，再将测序结果用Blast软件进行分析，并用x2检验对实验数据进行统计学分析。结果将Pitxl基因测序结果用Blast软件进行分析后发现，Pitxl基因中的第781碱基G突变为A。在89例患儿中，有14例发生了上述突变，全部为先天性马蹄内翻足患儿，正常对照组未发现。用四格表资料的z。检验对实验数据进行分析得到差异有统计学意义（x2=10．27，P〈0．05）。并且，在14例Pitxl基因突变先天性马蹄足患儿中，双侧7例，右侧6例，左侧1例。结论Pitxl基因突变可能是先天性马蹄内翻足的致病原因之一。

Objective To investigate the relationship between Paired-like homeodomainl（Pitxl） gene mutation and congenital talipes equinovarus （CTEV）. Methods Pitxl gene of gastrocnemius muscles was detected using RTPCR assay in 55 patients with CTEV（CTEV group） and 34 normal children （control group）. The gene sequencing of Pitxl was performed and the data was analyzed using Blast software. All the data were statistically analyzed by Chi-square test. Results Fourteen out of 55 patients had the Pitxl gene mutation with the guanine replaced by a adenine at the 781 st base, while no mutation was found in the control group （x2 = 10. 27, P〈0. 05）. In 14 patients with the gene muta- tion,7 had bilateral clubfoot,6 had right clubfoot and the other 1 had left clubfoot. Conclusions The Pitxl gene mutation may be involved in the pathogenesis of CTEV.