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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(213bp)、TT基因型(179/34bp)和CT基因型(213/179/34bp)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。
Objective To detect the polymorphism of estrogen receptor 1 (ESR1) gene in preterm children and analyze its correlation with intracerebral hemorrhage (IVH) in premature infants, so as to understand the pathogenesis and influencing factors of intraventricular hemorrhage in premature infants Better for the prevention, diagnosis, treatment of etiology, to further improve the prognosis. Methods From January 2012 to February 2015, 45 cases of premature infants diagnosed as intraventricular hemorrhage by head CT examination and 50 cases of normal control group were selected. The PvuII endonuclease was used to detect the polymorphism of ESR1 gene in normal and diseased samples and to analyze the genotype distribution and correlation of ESR1 gene polymorphism in preterm infants with intraventricular hemorrhage. The results showed that there was a polymorphism distribution of ESR1 gene in preterm infants with ICH. The rs2234693 genotypes were CC genotype (213bp), TT genotype (179 / 34bp) and CT genotype (213/179 / 34bp) The frequencies of TC and TC genotypes in ESR1 (rs2234693) in IVH experimental group were significantly higher than those in control group (χ2 = 6.57, P <0.05). The frequency of T allele in ESR1 (rs2234693) in IVH experimental group was higher than that in control group, with significant difference between the two groups (χ2 = 5.40, P <0.05). Conclusion There is a correlation between the T allele of rs2234693 in ESR1 gene and intraventricular hemorrhage in premature infants.