【摘要】 目的对神经管畸形(NTDs)发病危险和还原叶酸载体基因(RFC1)A80G多态性进行关联研究,为寻找NTDs的遗传易感标志物提供流行病学依据。方法采用RFLP-PCR方法,对104 例NTDs儿及其父母和99名正常儿童及其父母的外周血DNA进行RFC1第80位SNP检测,对核心家庭基因型进行病例对照研究,对NTDs杂合子父母G等位基因进行传递不平衡检验(TDT)。结果NTDs儿G等位基因频率高于对照儿,OR值为1.64(95%CI:1.08～2.49);GG基因型的患儿发生NTDs危险高于AA基因型(OR=2.56,95%CI:1.04～6.36);TDT结果显示,RFC1等位基因G 与NTDs之间存在关联(x2=5.2364,P<0.05),携带G等位基因发生NTDs的危险是非携带者的1.56倍(95%CI:1.07～2.28)。结论发现在中国人群中RFC1基因多态性与NTDs存在关联,初步表明该基因G等位基因可能是NTDs发生的遗传易感基因之一。更多还原

【Abstract】 Objective To study the association between reduced folate carrier gene(RFC1 A80G) polymorphism and the risk for child with neural tube defects ( NTDs), and to provide epidemiological evidence for the existence of NTDs genetic marker. Methods RFC1(A80G) genotypes were detected using RFLP-PCR for blood DNA of 104 families with NTDs-affected children and 100 control families with no history of child-affected birth defects. Case-control study and transmission/disequilibrium test(TDT) for the RFC1 genotype of NTDs pedigree were carried out. Results The G allele frequency of children with NTDs was higher than that of controls when compared to A allele( OR = 1.64 ,95% CI: 1.08-2.49). The offspring of the GG genotype were associated with a 2. 56-fold increased risk of NTDs when compared to the AA genotype ( OR = 2.56,95% CI: 1.04-6.36) in our study population. There was evidence of association between G allele and the risk of parent having a child with NTDs( OR = 1. 56,95 % CI: 1.07-2.28) in the TDT analysis. Conclusion Our findings indicated that there was potential association between offspring RFC 1 GG genotype and the risk of NTDs, and the G allele was a possible susceptible gene marker for an increased NTDs risk in the Chinese population.更多还原