COL1A1基因PCOL2和Sp1结合位点多态与先天性髋脱位的关联分析  

Association analysis on the polymorphisms of PCOL2 and Sp1 binding sites of COL1A1 gene and the congenital dislocation of th e hip in Chinese population

作　　者：姜俊[1] 麻宏伟[1] 李祁伟[2] 吕峻峰[1] 牛国辉[1] 张立军[2] 吉士俊[2] 

机构地区：[1]中国医科大学附属第二医院遗传研究室,发育儿科,沈阳110004 [2]中国医科大学附属第二医院小儿外科,沈阳110004

出　　处：《中华医学遗传学杂志》2005年第3期327-329,共3页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金(39970762);辽宁省自然科学基金(972248)~~

摘　　要：目的研究Ⅰ型胶原α1链(collagentypeⅠalpha1,COL1A1)基因PCOL2和Sp1结合位点多态性在中国北方人群中的分布,并探讨其与先天性髋脱位(congenitaldislocationofthehip,CDH)的关系。方法在81个CDH核心家系的243名成员中,采用聚合酶链反应限制性片段长度多态性分析方法,对位于COL1A1基因启动子内的PCOL2多态(-1997G/T)和转录调控区第1内含子内的Sp1多态(1546G/T)进行基因分型,并进行传递不平衡检验。结果COL1A1基因PCOL2结合位点G/T多态与CDH不存在明显关联(P=0.537),中国人PCOL2多态位点的基因型和等位基因频率分布与西班牙白人群和美国白人群差异存在统计学意义;Sp1结合位点只检测到SS基因型,未检测到Ss或ss基因型。结论COL1A1基因PCOL2和Sp1结合位点多态存在种族差异,PCOL2和Sp1结合位点多态可能与中国人CDH的发病风险无关。Objective To investigate the polymorphism distr ib ution of the PCOL2 and Sp1 binding sites of the collagen typeⅠalpha 1 (C OL1A1) gene in Chinese population and explore their relationship with conge nital dislocation of the hip (CDH). Methods The PCOL2 polymorp hism (-1997 G/T) in COL1A1 promoter and the Sp1 polymorphism (1546 G /T) in intron 1 were genoty ped in 243 members from 81 CDH nuclear family trios by the technique of polymerase chai n reaction-restriction fragment length polymorphism, and then transmission dise quilibrium test was used to analyze the data of genotypes. Results No statistically significant association was observed bet ween CDH and PC OL2 polymorphism. Significant differences of genotype and allele f requency distributions were detected between the Chinese population and the Cauc asian population in Spain, and between the Chinese population and the Caucasian population in America. The allele at the Sp1 site that has been found to be po lymorphic in other populations was not found in Chinese. Conclusion There exists racial difference in the distribution of the PCOL2 and Sp1 polymorphisms of COL1A1 gene. The results suggest that the PCOL2 and Sp1 polymorphisms may not be the major susceptibilit y gene of CDH in Chinese population. 先天性髋脱位(congenitaldislocationofthehip,CDH)是小儿 骨科常见的严重危害儿童健康的先天畸形之一,作为一种多因 素复杂疾病,其病因不清。目前众多学者认为髋关节囊松弛、 有关韧带松弛(如圆韧带)和骨盆韧带松弛,以及软骨发育异常 导致的髋臼发育不良是CDH的主要致病因素。Ⅰ型胶原是机 体主要的结构胶原,是由2条Ⅰ型胶原α1链(collagentypeⅠ alpha1,COL1A1)基因编码的α1链和1条COL1A2基因编码的 α2链组成的三螺旋结构,这两种基因突变均可能导致肌腱、韧 带及关节囊松弛和软骨细胞分化异常。1999年Giunta等[1]报 道了因COL1A1和COL1A2基因杂合性突变导致的20例Ehlers Danlos综合征患者均表�

关 键 词：COL1A1基因 PCOL2 SP1 结合位点 基因多态性 先天性髋脱位 遗传因素 

分 类 号：R726.8[医药卫生—儿科]