多重探针连接依赖式扩增技术检测矮小儿童生长激素受体基因分析  

Analysis of growth hormone receptor gene detected by multiplex ligation-dependent probe amplification in children with short stature

作　　者：邱明慧[1] 董国庆[1] 陆喜燕[1] 黄爱娣[1] 李坚旭[1] 谢建生[1] 

机构地区：[1]南方医科大学附属深圳妇幼保健院儿科,518028

出　　处：《中国计划生育学杂志》2014年第7期443-447,共5页Chinese Journal of Family Planning

基　　金：深圳市科技计划项目(201102098)

摘　　要：目的：探讨矮小儿童生长激素受体（GHR）基因的变异情况。方法：选择矮小儿童96例,其中生长激素缺乏症（GHD）67例、特发性矮小（ISS）29例,另选择生长发育正常儿童23例,采集外周血,应用多重探针连接依赖式扩增（MLPA）技术检测GHR基因10个外显子,并分析比较GHR外显子的基因型及等位基因频率分布情况。结果：GHR基因外显子1～10均未发现信号升高,外显子1、2和4～10也未发现信号降低或缺失等异常情况;GHR外显子3信号降低和缺失的发生率在GHD组分别为34.3%、1.5%,在ISS组为17.2%、3.4%,在正常对照组为26.1%、8.7%;3组儿童GHR外显子3的3种基因型及等位基因频率的差异均具有统计学意义。结论 GHR基因外显子3在矮小及正常儿童中均存在多态性,GHR基因对身高的影响及其生物学功能有待进一步探讨。Objective： To explore growth hormone receptor （GHR） gene polymorphism in children with short stature. Methods：Blood samples were collected in 96 children with short stature, who were divided into growth hormone deft- ciency （GHD） group （n= 67） and idiopathic short stature （ISS） group （n=29）. Meanwhile, blood samples were col- lected in 23 health children as control group. The GHR gene （10 exons） of all the children were detected by multiplex ligation--dependent probe amplification （MLPA）, a＇nd the growth hormone receptor （GHR） gene polymorphism were analyzed through gene--marker software. Results： No signal anomalies were found in GHR gene exon 1, 2 and 4 to 10. The detection rates of fl/d3 and d3/d3 of growth hormone receptor were 34.3%, 1.5% in GHD group, 17.2%, 3.4% in ISS one and 26.1% ,8.7% in the controls. There were significant differences of GHR genotype and the allele frequen- cy distribution among these three groups. Conclusion; GHR gene exon 3 deletion is the polymorphism in the children with short stature and health children. The influence of GHR gene on the height of children and their specific biological function remain to be further explored.

关 键 词：矮小 多重探针连接依赖式扩增技术 生长激素受体 基因 多态性 

分 类 号：R725.8[医药卫生—儿科]