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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。

英文摘要:

Objective:To study the relationship between MTHFR gene, PAI-1 gene polymorphism and premature birth.Methods:285 cases of hospitalized children from our hospital between January 2014 to January 2015 were randomly selected and divided into four groups. Then the MTHFR gene C677T and PAI gene was extracted from peripheral blood, then amplified and detected.Results:The C6 77T amplification fragments of MTHFR gene was198 bp, the restriction enzyme action forms after wild type CC (198 bp) fragment, homozygous mutations TT type bp, 23 (175 bp) and heterozygous mutation type CT (23 bp and 175 bp and 198 bp). PAI gene fragments amplified 142 bp, the restriction enzyme action forms after 3 genotypes , respectively 4 G/4G type bp, 46 (96 bp), 5G/5G bp, 46 bp and 74 bp (22) and 4G/5G type (22 bp, 46 bp and 74 bp and 74 bp). Premature children and full-term children MTHFR gene loci 677 T allele distribution significant difference (P<0.05), premature children and 675 full-termchildren PAI gene promoter site there was no significant difference between 4G allele distribution (P>0.05).Conclusion:MTHFR gene 677 locus T polymorphism may be associated with the susceptibility of premature birth, while there was no significant correlation between the polymorphism of the 675 locus of PAI gene and the occurrence of premature birth.

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