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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。
Aims: To investigate the polymorphism distribution of C677T mutation in exon 4 of N5’N10-methylenetetrahydrofolate reductase (MTHFR) gene in Han patients with congenital simple low spina bifida (SB) and their families Disease related. Methods: The C677T polymorphism of 69 patients with low spina bifida, 93 parents and 129 healthy controls were analyzed by PCR-RFLP and sequenced. Results: There was no significant difference in the frequency of TT genotypes between the spina bifida patients, parents, and controls (P> 0.05). There was also no significant difference in the frequencies of T alleles (P> 0.05). CONCLUSION: The C677T mutation in exon 4 of MTHFR gene may not be an independent genetic risk factor for simple low spina bifida. Simple low spina bifida may be used as a mild neural tube defects (NTDs). The genetic causes may be Different from other NTDs.