中文摘要：

目的研究亚甲基四氢叶酸还原酶（MTHFR）基因、纤溶酶原激活剂抑制物-1（PAI-1）基因多态性与早产及痉挛型脑性瘫痪（CP）的相关性,探讨MTHFR基因、PAI-1基因在早产及痉挛型CP发病中的作用。方法采用病例对照研究,研究对象分为4组：早产痉挛型CP组（n=103）、足月HIE＋CP组（n=162）、早产组（n=101）、健康足月组（n=171）,后2组作为对照组。抽取研究对象外周静脉血1 mL,应用PCR-限制性片段长度多态性（RFLP）技术检测MTHFR基因C677T、MTHFR基因A1298C和PAI-1基因启动子675位点4G/5G基因多态性。分析基因型分布与早产、痉挛型CP发病的相关性。结果 MTHFR基因677位点T等位基因频率在早产儿和早产CP患儿与足月儿中有统计学差异（χ2=9.94,P〈0.01）。MTHFR基因C677T的TT纯合子突变在CP患儿和对照组儿童均与早产的发生呈正相关,MTHFR基因C677T的TT纯合子突变在CP患儿和对照组儿童与痉挛型CP发生均无统计学相关。MTHFR基因1 298位点C等位基因频率和PAI-1基因启动子675位点4G等位基因频率在CP患儿和对照组儿童中均无统计学差异（χ2=2.18、2.36,Pa〉0.05）。MTHFR A1298C基因突变和PAI-1基因启动子675位点4G/5G基因多态性的4G/4G基因型与我国儿童早产及痉挛型CP发生均无显著相关性。结论 MTHFR基因C677T的TT基因型与早产的发生显著相关,与痉挛型CP的发生无显著相关。MTHFR基因A1298C和PAI-1基因启动子675位点4G/5G多态性与早产及痉挛型CP的发生均无显著相关。

英文摘要：

Objective To investigate the relationship of methylenetetrahydrofolate reductase（MTHFR）gene,plasminogen activator inhi-bitor-1（PAI-1） gene polymorphisms and preterm birth,spastic cerebral palsy（CP）,and explore the effect of MTHFR gene and PAI-1 gene in pathogenesis of premature children and spastic CP.Methods In the case-control study,the subjects were divided into 4 groups：premature spastic CP group（n=103）,full-term with HIE＋CP group（n=162）,premature group（n=101）,full-term healthy group（n=171）.The subjects were drawn 1 mL peripheral venous blood,which applied polymerase chain reaction-restriction fragment length polymorphism（PCR-RFLP） to detect MTHFR gene C677T,MTHFR gene A1298C and PAI-1 gene promoter region 675 4G/5G polymorphisms.At the same time,relevance of genotype distribution and pathogenesis of premature and spastic CP were analyzed.Results T allelomorphic gene frequencies at the MTHFR gene 677 locus of the premature infant and premature CP infant and full-term infant showed strong difference in the statistics（χ2=9.94,P0.01）.In CP children and healthy children,the MTHFR-677 TT homozygous mutation genotype showed strong positive association with preterm birth,and there existed no significant association between TT genotype and spastic CP.C allel-omorphic gene frequencies at the MTHFR gene 1298 locus and 4G allel-omorphic gene frequencies at PAI-1 gene promoter region 675 locus had no statistical difference between cerebral palsy children and healthy children（χ2=2.18,2.36,Pa0.05）.There existed no significant association between MTHFR-1298 gene mutation,PAI-1 gene promoter region-675 4G/5G gene polymorphism 4G/4G genotype and preterm birth,spastic CP.Conclusions The TT genotype of MTHFR gene C677T is positively associated with preterm birth,while it don′t significantly relate with spastic CP.There exists no significant association between MTHFR gene A1298C,PAI-1 gene promoter region 675 4G/5G polymorphisms and preterm birth,spastic CP.