单纯性低位脊柱裂与MTHFR基因C677T多态位点的相关性研究

Correlation between simple low spina bifida and MTHFR allele C677T polymorphism

目的:研究N5'N10-亚甲基四氢叶酸还原酶(MTHFR)基因第4外显子C677T突变在汉族先天性单纯性低位脊柱裂(SB)患者及其家庭中的多态性分布和致病相关性。方法:应用限制性片段长度多态聚合酶链反应(PCR-RFLP)技术对69名低位脊柱裂患者、93名患者双亲及129名健康人的C677T多态性进行分析及部分测序鉴定。结果:脊柱裂患者、双亲、对照组两两之间的TT基因型频率差异无统计学意义(P>0.05),T等位基因频率的差异也没有统计学意义(P>0.05)。结论:MTHFR基因第4外显子的C677T突变可能不是单纯性低位脊柱裂的独立遗传致病因素,单纯性低位脊柱裂作为表型轻微的神经管畸形(neural tube defects,NTDs),遗传病因可能与其他NTDs不同。

Objective： To explore the polymorphisms of exon 4 C677T mutation of the N5 N10 - methylenetetrahydrofolate reduc- tase （MTHFR） in the congenital simple low spina bifida sufferers of Han nationality and their families, and the pathogenic correlation be- tween C677T mutation and low spina bifida. Methods： By restriction fragment length polymorphism polymerase chain reaction （ PCR - RFLP） , 69 cases of low spina bifida, 93 parents of these sufferers and 129 healthy subjects were analyzed to observe the polymorphism of C677T, and partially performed DNA sequencing. Results： The difference in T＇F genotype frequency between any two of the three groups was not statistically significant. Nor was the difference in T allele frequency. Conclusion： The mutation of C677T in MTHFR gene may not be an independent genetic risk factor of simple level spina bifida. As a mild phenotype of neural tube defects, simple low spina bifida may ha^e dif- ferent genetic etiology.