中文摘要：

目的：探讨RFC-1基因多态性与神经管畸形发生之间的相关性研究。方法：对病例组和对照组的样本人群的RFC-1基因进行基因测序,并运用Swiss Pdb viewer 4.0软件分析RFC-1 A80G位点空间结构的变化。结果：病例组RFC-1基因80位点GG基因型和G等位基因频率（16.7%和35.0%）均高于对照组（4.0%和12.0%）。Logistic回归分析RFC-1基因80位点G等位基因OR值6.101（P〈0.05）,提示发生NTDs的风险增大。结论：山西汉族人群中RFC-1基因A80G点突变与神经管畸形之间有相关性,应该作为神经管畸形病因研究中的潜在危险因素。

英文摘要：

Objective：To study of the relevance of nucleotide polymorphisms of the maternal RFC-1 gene and association with fetal neural tube defects.Methods：The genotypic distributions of RFC-1 gene polymorphisms in DNA samples between the case and control groups were survey.RFC-1 A80 GA change of three-dimensional protein model was predicted using Swiss-Pdb Viewer software version 4.0 and analyzed using Chi-squared tests.Results：Significant differences were observed in the genotypes and allele frequencies of the RFC-1 gene allele between the case and control groups（16.7% VS 4.0%,35.0% VS 12.0%）.Logistic regression analysis showed that the RFC-1 A80 G mutation was a potential risk factor for neural tube defects（OR 6.101;P〈0.05）.Conclusion：Maternal RFC-1 A80 G gene polymorphisms were associated with fetal neural tube defects in Han Chinese women in Shanxi Province.