目的 检测早产儿血中雌激素受体1(ESR1)基因多态性,并分析其与早产儿脑内出血症(IVH)的相关性,从而了解早产儿脑室内出血的发病基础和影响因素,做到更好地针对病因的预防、诊断、治疗,进一步改善预后。方法 选取2012年1月-2015年2月经头颅CT检查后诊断为脑室内出血的早产儿45例,正常对照组50例。采用PvuⅡ内切酶对病样及正常样本的ESR1基因的多态性进行检测,分析ESR1基因多态性在早产儿脑室内出血患儿中的基因型分布及相关性。结果 显示早产儿脑室内出血患儿的ESR1基因呈多态性分布,rs2234693位点基因型主要有CC基因型(213 bp)、TT基因型(179/34 bp) 和CT基因型(213/179/34 bp)三种,IVH实验组ESR1(rs2234693)位点的TC与TC基因型频率均高于对照组,两组之间差异有统计学意义(χ2=6.57,P<0.05)。IVH实验组ESR1(rs2234693)位点的T等位基因频率均高于对照组,两组之间差异有统计学意义(χ2=5.40,P<0.05)。结论 ESR1基因rs2234693位点T等位基因与早产儿脑室内出血存在某种相关性。
Abstract
Objective To detect the polymorphism of estrogen receptor 1 (estrogen receptor alpha,ESR1),to analyze the relationship of ESR1 genotypes and intraventricular hemorrhage (IVH),to understand the pathogenesis and influence factors of intraventricular hemorrhage on premature infant,and to further improve the prevention,diagnosis,treatment and prognosis. Methods The diagnosis of 45 newborns of intraventricular hemorrhage were confirmed by head CT examination from January 2012 to February 2015,50 cases of normal newborn were selected as the control group.Using endonuclease PvuII in the disease samples and normal samples for ESR1 gene polymorphism,and the distribution and correlation of ESR1 gene polymorphism with premature infant intraventricular hemorrhage were analyzed. Results Premature infant's intraventricular hemorrhage with PvuII restriction fragment length polymorphism showed polymorphism,rs2234693 genotype was genotype CC (213 bp),the TT genotype (179/34 bp) and CT genotype (213/179/34 bp).In IVH experimental group,ESR1 (rs2234693) TC type and the frequency loci were higher than those of the control group,the difference was statistically significant between the two groups (χ2=6.57,P<0.05).The experimental group's IVH ESR1 (rs2234693) of TC allele frequency was higher than that of the control group,the difference was statistically significant between the two groups (χ2=5.40,P<0.05). Conclusion There is a correlation between the ESR1 gene rs2234693 locus T and the premature infant intraventricular hemorrhage.
关键词
早产儿脑室内出血 /
基因多态性 /
雌激素受体基因1
Key words
intraventricular haemorrhage in premature infants /
gene polymorphism /
estrogen receptor alpha gene
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基金
石河子大学医学院硕士研究生课题(2012109067)
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