生长激素受体基因多态性与广西瑶族儿童特发性矮小症的相关性研究

doi:10.11852/zgetbjzz2015-23-07-08

中国儿童保健杂志 ›› 2015, Vol. 23 ›› Issue (7): 699-702.DOI: 10.11852/zgetbjzz2015-23-07-08

生长激素受体基因多态性与广西瑶族儿童特发性矮小症的相关性研究

曾婷¹,严提珍²,唐宁²,李红辉¹,李伍高²,李哲涛²,张玉¹

1 柳州市妇幼保健院儿童保健科,广西柳州 545001;
2 柳州市妇幼保健院检验科;

柳州市出生缺陷预防与控制重点实验室,广西柳州 545001

收稿日期:2015-01-17 发布日期:2015-07-10 出版日期:2015-07-10
通讯作者: 严提珍,E-mailyantizhen@sohu.com
作者简介:曾婷(1976-),女,广西人,副主任医师,研究方向为儿童生长发育及内分泌疾病。
基金资助:
中国疾病预防控制中心妇幼保健中心合生元母婴营养与健康研究项目(2013FY007);广西壮族自治区卫生厅项目(Z2013598);柳州市科学研究与技术开发计划项目(2014G020404)

Relationship between growth hormone receptor gene polymorphism and idiopathic short stature in Guangxi Yao nationality children.

ZENG Ting¹,YAN Ti-zhen²,TANG Ning²,LI Hong-hui¹,LI Wu-gao²,LI Zhe-tao²,ZHANG Yu¹.

1 Department of Child Health,Liuzhou Maternal and Child Health Hospital,Liuzhou,Guangxi 545001,China;
2 Department of Clinical Laboratory,Liuzhou Key Laboratory of Birth Defects Prevention and Control,Liuzhou Maternal and Child Health Hospital,Liuzhou,Guangxi 545001,China

Received:2015-01-17 Online:2015-07-10 Published:2015-07-10
Contact: YAN Ti-zhen,E-mail:yantizhen@sohu.com

摘要/Abstract

摘要： 目的探讨生长激素受体(growth hormone receptor,GHR)基因的单核苷酸多态性(SNaPshot,SNP)与广西瑶族儿童特发性矮小(idiopathic short stature,ISS)遗传易感性的关系。方法采用病例对照法,对100例广西瑶族ISS病例及100例广西瑶族正常儿童分别进行身高、体重测量及血清胰岛素样生长因子-1(insulin-like growth factor-1,IGF-1)测定。利用SNaPshot技术分析这些儿童GHR基因的rs4410646、rs2940913、rs12515480等3个SNPs位点进行基因型和等位基因频率的分布情况。结果 1)rs4410646(A/C)位点AA、AC、CC基因型分布在ISS组与正常组中差异有统计学意义(P<0.05),等位基因A、C在ISS组与正常组中差异无统计学意义(P>0.05);2) rs2940913(A/C)位点AA、AC、CC基因型及等位基A、C在ISS组和正常对照组中差异无统计学意义(P>0.05);3)rs12515480(C/T)位点CC、CT、TT基因型及等位基因C、T在ISS组和正常对照组中差异均无统计学意义(P>0.05);4)ISS组儿童IGF-1水平明显低于正常组儿童。结论 GHR基因的rs4410646、rs12515480、rs2940913等3个SNPs位点变异性与广西瑶族儿童特发性矮小症无相关性。

关键词: 特发性矮小症, 生长激素受体基因, 瑶族

Abstract: Objective To investigate the relationship between growth hormone receptor (GHR) gene single nucleotide polymorphism (SNP) and idiopathic short stature (ISS) in Guangxi Yao nationality children.Methods A total of 100 ISS children and 100 normal control children were recruited.Height,body mass index (BMI) and serum insulin-like growth factor-1 (IGF-1) level were measured.Genomic DNA was extracted from the peripheral blood leukocytes,and the GHR gene rs4410646,rs2940913,and rs12515480 polymorphisms were genotyped by SNaPshot method. Results The genotype frequencies of rs4410646 (A/C) in ISS children were significantly different from those in controls (P<0.05).The allelic frequencies of rs4410646 in ISS children were not significantly different from those in controls (P>0.05).The genotype and allelic frequencies of rs2940913 (A/C) and rs12515480 (C/T) in ISS children were not significantly different from those in controls (P>0.05).The IGF-1 level within the ISS group was significantly lower than that of the control group (P<0.05).Conclusion GHR gene rs4410646,rs2940913,and rs12515480 polymorphisms are not associated with idiopathic short stature in Yao nationality children of Guangxi province.

Key words: idiopathic short stature, growth hormone receptor gene, Yao nationality

中图分类号:

R723.14

曾婷,严提珍,唐宁,李红辉,李伍高,李哲涛,张玉. 生长激素受体基因多态性与广西瑶族儿童特发性矮小症的相关性研究[J]. 中国儿童保健杂志, 2015, 23(7): 699-702.

ZENG Ting,YAN Ti-zhen,TANG Ning,LI Hong-hui,LI Wu-gao,LI Zhe-tao,ZHANG Yu.. Relationship between growth hormone receptor gene polymorphism and idiopathic short stature in Guangxi Yao nationality children.[J]. journal1, 2015, 23(7): 699-702.

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生长激素受体基因多态性与广西瑶族儿童特发性矮小症的相关性研究

Relationship between growth hormone receptor gene polymorphism and idiopathic short stature in Guangxi Yao nationality children.

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