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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。
Objective To investigate the association between MTHFR gene, plasminogen activator inhibitor-1 (PAI-1) gene polymorphism and preterm birth and spastic cerebral palsy (CP) The role of MTHFR gene and PAI-1 gene in the pathogenesis of preterm labor and spastic CP. Methods A case-control study was conducted. The subjects were divided into four groups: preterm spastic CP group (n = 103), full-term HIE + CP group (n = 162), premature labor group = 171), the latter two groups as a control group. 1 mL peripheral venous blood samples were collected and the polymorphisms of 4G / 5G gene at 675 site of MTHFR gene C677T, MTHFR gene A1298C and PAI-1 gene promoter were detected by PCR-restriction fragment length polymorphism (RFLP). Analysis of genotype distribution and preterm birth, spastic CP incidence. Results The frequency of allele 677 of MTHFR gene in preterm and preterm CP patients was significantly higher than that in term infants (χ2 = 9.94, P <0.01). The TT homozygote mutation of MTHFR gene C677T in children with CP and control group was positively correlated with the occurrence of preterm labor. TT homozygote mutation of MTHFR gene C677T in children with CP and control group had no significant correlation with spastic CP . The frequency of C allele at 1 298 site of MTHFR gene and 4G allele at 675 site of promoter of PAI-1 gene were not significantly different between children with CP and control group (χ2 = 2.18, 2.36, P> 0.05 ). The 4G / 4G genotypes of MTHFR A1298C gene mutation and PAI-1 gene promoter 675 4G / 5G gene polymorphism had no significant correlation with the occurrence of preterm and spastic CP in children in China. Conclusion The TT genotype of MTHFR gene C677T is significantly correlated with the occurrence of prematurity and no significant correlation with the occurrence of spastic CP. There was no significant correlation between 4G / 5G polymorphism at 675, MTHFR gene A1298C and PAI-1 gene promoter and spastic CP.