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Correlation between NFATC1 gene polymorphisms and congenital heart disease in children

机译:儿童NFATC1基因多态性与先天性心脏病的相关性

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OBJECTIVE: To analyze the links between NFATC1 gene polymorphism and congenital heart disease in children. PATIENTS AND METHODS: In the present study, we selected 85 children patients with congenital heart disease who were hospitalized from February 2013 to February 2015 as research subjects (observation group), and 92 healthy subjects as control group. Restriction fragment length polymorphism (RFLP) was used for analysis of NFATC1 gene in samples from each group. RESULTS: The distribution of NFATC1 genotype and allele between the observation group (children with congenital heart disease) and the control group showed no significant difference (p >0.05), but AA, GG genotypes, and allele frequency between pathological samples of children with congenital heart disease and the control group displayed significant difference (p <0.05) (X2 = 16.04, p <0.05; X2 = 16.29, p <0.05). Further analyses showed that AA, GG, AG genotype and allele frequency among children with congenital heart disease in observation group also showed a difference, i.e., homozygote (AA, GG) ratio in children with severe congenital heart disease is relatively high. CONCLUSIONS: There is a correlation between NFATC1 genes and the incidence of congenital heart disease in children, and a correlation between different genotypes and allele frequency and the incidence of the disease.
机译:目的:分析儿童NFATC1基因多态性与先天性心脏病之间的关系。患者与方法:在本研究中,我们选择了2013年2月至2015年2月住院的85例先天性心脏病患儿作为研究对象(观察组),将92例健康受试者作为对照组。限制性片段长度多态性(RFLP)用于分析各组样品中的NFATC1基因。结果:观察组(先天性心脏病患儿)与对照组之间NFATC1基因型和等位基因的分布无显着差异(p> 0.05),但先天性患儿病理样本之间的AA,GG基因型和等位基因频率心脏病和对照组显示出显着差异(p <0.05)(X2 = 16.04,p <0.05; X2 = 16.29,p <0.05)。进一步的分析表明,观察组先天性心脏病患儿的AA,GG,AG基因型和等位基因频率也存在差异,即重度先天性心脏病患儿的纯合子(AA,GG)比率较高。结论:NFATC1基因与儿童先天性心脏病的发病率相关,不同基因型与等位基因频率与疾病的发生率相关。

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