CAJ | 학술논문

目的研究Pitx1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Pitx1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Pitx1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Pitx1基因测序结果用Blast软件进行分析后发现,Pitx1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x2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Pitx1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 Pitx1基因突变可能是先天性马蹄内翻足的致病原因之一.
목적 연구Pitx1기인돌변여선천성마제내번족지간적상관성.방법 채용RT-PCR방법검측89례환인비장기조직적Pitx1기인,기중선천성마제내번족환인55례,정상대조조34례.PCR확증후,장소유Pitx1기인진행기인측서,재장측서결과용Blast연건진행분석,병용x2검험대실험수거진행통계학분석.결과 장Pitx1기인측서결과용Blast연건진행분석후발현,Pitx1기인중적제781감기G돌변위A.재89례환인중,유14례발생료상술돌변,전부위선천성마제내번족환인,정상대조조미발현.용사격표자료적x2검험대실험수거진행분석득도차이유통계학의의(x2 =10.27,P＜0.05).병차,재14례Pitx1기인돌변선천성마제족환인중,쌍측7례,우측6례,좌측1례.결론 Pitx1기인돌변가능시선천성마제내번족적치병원인지일.
Objective To investigate the relationship between Paired-like homeodomain1 (Pitx1)gene mutation and congenital talipes equinovarus (CTEV).Methods Pitx1 gene of gastrocnemius muscles was detected using RT-PCR assay in 55 patients with CTEV(CTEV group) and 34 normal children (control group).The gene sequencing of Pitx1 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 Pitx1 gene mutation with the guanine replaced by a adenine at the 781st base,while no mutation was found in the control group (x2 =10.27,P＜0.05).In 14 patients with the gene mutation,7 had bilateral clubfoot,6 had right clubfoot and the other 1 had left clubfoot.Conclusions The Pitx1 gene mutation may be involved in the pathogenesis of CTEV.