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目的研究N5’N10-亚甲基四氢叶酸还原酶(methylenetetrahydrofolate reductase,MTHFR)基因第4外显子C677T及第7外显子A1298C突变在汉族先天性单纯性低位脊柱裂(spina bifida,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/A1298C多态性进行分析及部分测序鉴定。结果脊柱裂患者组,双亲组,对照组两两之间的TT或AA的基因型频率差别无统计学意义(P值均大于0.05),T及A的等位基因频率的差别也没有统计学意义(P值均大于0.05)。结论MTHFR基因C677T和A1298C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 investigate the association between mutations in exon 4 C677T and exon 7 A1298C of methylenetetrahydrofolate reductase (MTHFR) gene in Han nationality with spina bifida (SB) Polymorphism distribution and pathogenicity in patients and their families. Methods The C677T / A1298C polymorphism in 69 patients with low spina bifida, 93 parents and 129 healthy controls was analyzed by PCR-RFLP and sequenced. Results There was no significant difference in genotype frequency of TT or AA between spina bifida patients, parents group and control group (P> 0.05), and there was no statistical difference in allele frequency between T and A Significance (P values were greater than 0.05). Conclusions The mutations of MTHFR gene C677T and A1298C may not be independent genetic risk factors of simple low spina bifida. Simple low spina bifida may be considered as a mild neural tube defects (NTDs). The genetic causes may be different from other NTDs.