特发性矮小患儿IGFBP-3 mRNA表达及基因外显子突变的研究  

Study on IGFBP-3 mRNA expression and mutation of IGFBP-3 gene exon in children with idiopathic short stature

作　　者：李静[1] 杨晓丽[1] 高爱梅[1] 

机构地区：[1]山西省人民医院儿科,太原030012

出　　处：《山西医科大学学报》2018年第2期174-177,共4页Journal of Shanxi Medical University

基　　金：山西省社会发展科技攻关项目(20140313016-3)

摘　　要：目的探讨特发性矮小(idiopathic short stature,ISS)儿童中的IGFBP-3 mRNA表达及IGFBP-3基因外显子突变情况。方法收集2012-05~2014-10来我科就诊的特发性矮小儿童26例,抽取10例来我科就诊的年龄、性别相匹配的正常身高儿童作为对照组。进行全面的病史采集和体格检查,留取血标本,采用荧光定量PCR法对IGFBP-3 mRNA进行检测,并采用PCR和克隆测序法,检测26例ISS患儿IGFBP-3基因外显子序列。结果 ISS组和正常对照组血清IGFBP-3 mRNA表达量差异无统计学意义(P>0.05)。IGFBP-3 mRNA表达量与身高差、性别、BMI均无相关性(P>0.05),IGFBP-3 mRNA表达量与年龄呈正相关(P<0.05)。26例ISS患儿均未检测到IGFBP-3基因外显子突变。结论 IGFBP-3 mRNA表达异常及IGFBP-3基因外显子突变可能不是本组ISS的致病原因。Objective To investigate the expression of IGFBP-3 mRNA and the mutation of IGFBP-3 gene exon in children with idiopathic short stature. Methods A total of 26 children with idiopathic short stature were enrolled as ISS group,and 10 age-matched normal height children were selected as control group. The IGFBP-3 mRNA was detected using fluorescence quantitative PCR method,and IGFBP-3 gene exon was detected using PCR and cloning sequencing method. Results There was no significant difference in the expression of serum IGFBP-3 mRNA between ISS group and control group（ P 〉0. 05）. For the ISS patients,the expression of serum IGFBP-3 mRNA was positively correlated with age（ P〉 0. 05）,but not with height difference,BMI and sex（ P 〈0. 05）. The mutation of IGFBP-3 gene exon was not detected in ISS children. Conclusion Abnormal expression of IGFBP-3 mRNA and the mutation of IGFBP-3 gene exon may be not the cause of idiopathic short stature.

关 键 词：特发性矮小 IGFBP-3 MRNA 基因突变 

分 类 号：R725[医药卫生—儿科]