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目的:研究同型半胱氨酸相关酶中亚甲基四氢叶酸还原酶(MTHFR)及蛋氨酸合成酶还原酶(MTRR)基因的多态性与先天神经管缺陷的关系。方法:采用病例对照研究的方法,以64名先天神经管缺陷的胎儿及新生患儿(观察组)与104名无先天神经管缺陷的胎儿及新生儿(对照组)的血白细胞为样本,应用聚合酶链反应-限制性片段长度多态性技术检测两组的MTHFR基因第677位点及MTRR第66位点的多态性,比较两组各自的基因型和等位基因的分布频率。结果:MTHFR的677位点CC、CT和TT基因型在疾病组中分别为26.56%、45.31%、28.13%,在对照组中分别为43.27%、44.23%、12.50%。两组的分布频率差异有显著性。MTRR基因第66位点AA、AG和GG基因型在疾病组分别为15.63%、70.31%、14.06%,在对照组中分别为48.08%、43.27%、8.65%。两组的分布频率差异有显著性。结论:①MTHFR基因第677位点及MTRR第66位点的多态性与先天神经管缺陷的发病具有一定程度的相关性;②MTHFR基因第677位点中的C/C及MTRR第66位点中的A/A均为先天神经管缺陷的保护基因;③两基因变异在先天神经管缺陷的发病中可能有协同作用。
OBJECTIVE: To study the relationship between polymorphisms of methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) in homocysteine-related enzymes and congenital neural tube defects. Methods: A case-control study was conducted in 64 fetuses and newborn children with congenital neural tube defects (observation group), 104 fetuses without congenital neural tube defect and neonatal (control group) Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to detect the polymorphism of MTHFR at position 677 and MTRR 66 in both groups. The genotypes and allele frequencies of the two groups were compared. Results: The genotype frequencies of CC, CT and TT at 677 were 26.56%, 45.31% and 28.13% in MTHFR group and 43.27%, 44.23% and 12.50% in control group respectively. There was a significant difference in the distribution frequency between the two groups. The genotypes of AA, AG and GG at position 66 of MTRR gene were 15.63%, 70.31% and 14.06% in the disease group and 48.08%, 43.27% and 8.65% in the control group respectively. There was a significant difference in the distribution frequency between the two groups. Conclusion: ①The polymorphism of MTHFR gene at position 677 and MTRR 66 has a certain degree of correlation with the pathogenesis of congenital neural tube defects. ②C / C and MTRR at position 677 of MTHFR gene at position 66 Of A / A are congenital neural tube defects in the protection of genes; ③ two gene mutations in the pathogenesis of congenital neural tube defects may have synergistic effects.