发育性髋关节发育不良患儿COL1A1基因启动子区突变筛查  

COL1A1 gene promoter mutations screening in the children with developmental dysplasia of the hip

作　　者：李连永[1] 赵群[1] 王莉莉[2] 高红[2] 张立军[1] 李祁伟[1] 

机构地区：[1]中国医科大学附属盛京医院小儿骨科,沈阳 110004 [2]卫生部小儿先天畸形重点实验室

出　　处：《中华小儿外科杂志》2010年第6期440-443,共4页Chinese Journal of Pediatric Surgery

基　　金：基金项目：国家自然科学基金资助项目（编号：30600654）;辽宁省科学技术计划项目（编号：20（15225013-1）

摘　　要：目的 检测发育性髋关节发育不良（developmental dysplasia of the hip,DDH）患儿的COL1A1基因启动子区是否存在突变.方法 对COL1A1基因转录起始点上游1060 bp（-1024～＋36 bp）的片段设计4对引物,在109例DDH患儿中分别进行PCR扩增,扩增产物直接测序.有基因变异的患儿,对其父母及100例正常儿的该段启动子也进行PCR扩增、测序,以确定变异位点的性质.结果 在2例DDH患儿的第-106位碱基检测到C→T杂合变异,同时对100例正常人进行测序,未发现相同的变异.经网上基因数据库检索,也未发现该位点有已知多态.证实COL1A1基因转录调控区-106位碱基的C→T杂合变异为DDH核心家系中新发现的突变.结论 在部分DDH患儿中,COL1A1基因启动子区的-106位碱基存在C→T杂合突变,该突变可能与DDH患儿关节囊及圆韧带组织中COL1A1表达降低有关.Objective To screen the mutations of the promoter of COL1Al gene in the children with developmental dysplasia of the hip （DDH）. Methods Transcription regulation region （ - 1024 bp ～ ＋ 36b p） of COL1A1 gene was examined in 109 DDH patients and 100 normal controls by PCR and gene sequencing. Results A heterozygous mutation of - 106C→T was detected in the transcription regulation region of COL1Al gene in two DDH pedigrees. This substitution was not observed in 100normal individuals. Conclusions A novel heterozygous polymorphism （ - 106C〉T） is identified in the transcription regulation region of COL1Al gene in patients with DDH. This polymorphism may play a role in the pathogenesis of DDH.

关 键 词：髋发育不良 先天性 髋关节 生长和发育 DNA突变分析 

分 类 号：R726.8[医药卫生—儿科]