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目的:探讨MTHFR基因、PAI-1基因多态性与新生儿早产的关系。方法:选自2014年1月-2015年1月期间我院住院患儿285例并分为四组。抽取研究对象静脉血进行目的基因MTHFR基因C677T、PAI基因的提取、扩增及检测。结果:MTHFR基因C677T扩增片段198 bp,经限制性内切酶作用后形成野生CC型(片段198 bp)、纯合子突变TT型(175 bp、23 bp)以及杂合子突变CT型(23 bp、175 bp以及198 bp);PAI基因扩增片段142 bp,经限制性内切酶作用后形成三中基因型,分别为4G/4G型(96 b p、46 bp)、5G/5G型(22 bp、46 bp以及74 bp)以及4G/5G型(22 bp、46 bp、74 bp以及96 bp)。早产儿童与足月儿童MTHFR基因67 7位点T等位基因分布差异显著(P<0.05),早产儿童与足月儿童PAI基因启动子675位点4G等位基因分布无显著性差异(P>0.05)。结论:早产发生的易感性与多方面因素有关,其中遗传因素方面MTHFR基因677位点T等位基因多态性可能与新生儿早产相关,而PAI基因启动子675位点基因的多态性与新生儿早产的发生无显著相关。
Objective: To investigate the relationship between MTHFR gene, PAI-1 gene polymorphism and neonatal preterm birth. Methods: A total of 285 hospitalized children in our hospital from January 2014 to January 2015 were divided into four groups. Venous blood samples were drawn from the target gene MTHFR gene C677T, PAI gene extraction, amplification and detection. Results: The C677T amplified fragment of MTHFR gene was 198 bp in length. After restriction endonuclease treatment, wild type CC (198 bp), homozygous TT genotype (175 bp, 23 bp) and heterozygous mutant CT (23 bp , 175 bp and 198 bp, respectively). The PAI gene amplified 142 bp and the three genotypes were formed by restriction endonucleases (4G / 4G (46 bp, 46 bp) and 5G / 5G bp, 46 bp, and 74 bp) and 4G / 5G (22 bp, 46 bp, 74 bp, and 96 bp). The allele distribution of MTHFR at position 67 7 in preterm and term children was significantly different (P <0.05). There was no significant difference in the distribution of 4G allele between PAI gene promoter 675 in preterm and full term children (P> 0.05). Conclusions: The susceptibility to preterm labor is related to many factors. The genetic polymorphism of M allele at 677 locus of MTHFR gene may be related to the premature birth in neonates. However, the genetic polymorphism of PAI gene at locus 675 and Neonatal preterm birth no significant correlation.