天津医药

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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

崔敬茹1,郑荣秀2,刘戈力3,杨箐岩2,梁东春4   

  1. 1. 天津医科大学
    2. 天津医科大学总医院
    3. 天津医科大学总医院儿科
    4. 天津医科大学内分泌研究所
  • 收稿日期:2010-08-23 修回日期:2011-01-13 出版日期:2011-05-15 发布日期:2011-05-15
  • 通讯作者: 杨箐岩

Comparison of genotype distribution of GHR gene exon 3 deletion polymorphism between children with short stature and normal children

  • Received:2010-08-23 Revised:2011-01-13 Published:2011-05-15 Online:2011-05-15

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摘要： 目的：研究生长激素受体基因（Growth hormone receptor,GHR）外显子3缺失多态性在矮小症儿童（实验组）与正常儿童（对照组）两个人群的分布，并比较两者有无差异。方法：依照纳入标准从2009～2010 年天津医科大学总医院儿科就诊的矮小症儿童中筛选出143例患者和进行健康体检的172例身高在正常范围儿童作为研究对象，抽取静脉血液3ml，提取DNA，采取多重PCR方法对GHR外显子3缺失多态性进行分析，最后采用SPSS 16.0 统计软件对两组基因型进行χ2 检验统计分析。结果：实验组与对照组中都均以fl/fl为主，两组基因型分布存在差异（P＜0.05）。结论：实验结果示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，但需要更多的标本量进一步证实。

关键词: 生长激素受体, 外显子3, 基因多态性, 分布, 矮小儿童

Abstract: Objective：To study the differences of growth hormone receptor（GHR） gene between children with short stature （study group）and normal children（control group）in molecular level by comparing　genotype distribution of GHR gene exon 3 deletion polymorphism. Methods：In our study，we selected 143 individuals with short stature and 172 individuals with normal stature by the study criterions，diagnosed in General Hospital of Tianjin Medical University during 2009～2010. 3 ml venous blood was withdraw and the genomic DNA was isolated from the whole blood cells with the use of a DNA Blood Kit, a simple multiplex PCR assay was designed. Finally calculated the allele frequency and genotype frequency in study and control groups by SPSS16.0. Results: The frequencies of genotypes fl/ fl were much higher than the others in both study and control groups. The allele frequency and distributions of genotype between two groups had a significant difference by χ2 calculation in 0.05 level. Conclusion: Differences in genotype distribution of GHR gene exon 3 deletion polymorphism exist in children with short stature and children with normal stature.

Key words: Growth hormone receptor, Exon 3, Gene polymorphism, Distribution, Short stature , Children