生长激素受体外显子3缺失多态性在矮小儿童与正常儿童中的分布比较  

Comparison of Genotype Distribution of Growth Hormone Receptor Exon3 Deletion Polymorphism between Children with and without Short Stature

作　　者：崔敬茹[1] 郑荣秀[1] 刘戈力[1] 杨箐岩[1] 梁东春[2] 

机构地区：[1]天津医科大学总医院儿科,300052 [2]天津医科大学内分泌研究所生化与分子生物实验室

出　　处：《天津医药》2011年第5期387-390,共4页Tianjin Medical Journal

基　　金：天津市卫生局科技基金资助项目(项目编号:09k2110)

摘　　要：目的:研究生长激素受体(GHR)基因外显子3缺失多态性在矮小症儿童与正常儿童的人群分布,并比较二者有无差异。方法:选择矮小症儿童143例为试验组,包括生长激素缺乏症(GHD)58例,小于胎龄儿(SGA)40例,特发性矮小症(ISS)45例。采用多重聚合酶链反应(PCR)的方法对GHR外显子3缺失进行多态性分析,与同期健康儿童170例(对照组)对比。结果:试验组GHR外显子3缺失多态性fl/fl、fl/d3、d3/d33种基因型分别为71、58、14例,对照组为110、49、11例,前者fl/d3和d3/d3的比例明显高于后者,2组多态性分布差异有统计学意义(P<0.05)。试验组d3等位基因频率0.301(86/286)高于对照组的0.209(71/340),差异有统计学意义(P<0.05)。不同地区正常人群中3种基因型及等位基因频率分布对比差异有统计学意义(P<0.05),而SGA和GHD患者间分布差异均无统计学意义(均P>0.05)。结论:GHR外显子3多态性在矮小症儿童与正常儿童中的分布存在差异,推测可能与矮小症发病有一定关系。Objective：To study the distribution of growth hormone receptor（GHR） gene exon 3 deletion polymorphism between children with and without short stature.Methods：In our study,143 children with short stature,including 58 growth hormone deficiency（GHD）,40 small for gestational age（SGA） and 45 idiopathic short stature（ISS）,were selected as the experimental group,and 170 healthy children as control group.A simple multiplex polymerase chain reactions（PCR） technique was used to detect the GHR gene exon 3 deletion polymorphism in children of two groups.Results：The frequencies of three genotypes（fl/fl,fl/d3 and d3/d3） were 71,58 and 14 in experimental group,and the corresponding figures were 110,49 and 11 in controls .The proportion of fl/d3 and d3/d3 was obviously higher in experimental group than that of control group（P 0.05）.The frequency of d3 was significantly higher in experimental group（0.301） compared with that of control（0.209,P 0.05）.The differences of genotype and allele frequency distribution were significantly different between normal individuals in different regions（P 0.05）.But there were no significant differences in frequencies of three genotypes（fl/fl,fl/d3 and d3/d3） between SGA and GHD children（P 0.05）.Conclusion：Differences in genotype distribution of GHR gene exon 3 deletion polymorphism exist in children with short stature and children with normal stature,which may be related with the etiology of short stature.

关 键 词：人生长激素 受体 促生长素 外显子 多态现象 遗传 生长障碍 婴儿 小于胎龄 

分 类 号：R544.1[医药卫生—心血管疾病]