单纯性低位脊柱裂与MTHFR基因C677T及A1298C多态位点的相关性研究  

The relevant research between MTHFR allele C677T / A1298C polymorphism and simple low level spina bifida in China

作　　者：钟伟[1] 程时刚[2] 韩晓敏[3] 

机构地区：[1]湖北省肿瘤医院乳腺科,湖北武汉430079 [2]湖北省妇幼保健院外科 [3]华中科技大学同济医学院附属协和医院泌尿外科

出　　处：《现代预防医学》2013年第17期3259-3262,共4页Modern Preventive Medicine

基　　金：国家重点基础研究发展计划(973计划)(2003CB515300)

摘　　要：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 observe the polymorphisms of the MTHFR gene＇s 4th exon C677T mutation and 7th exon A1298C mutation in patients with simple low level spina bifida and their parents, and to explore the relationship between C677T/A1298C mutation and low level spina bifida （SB）. METHODS 69 cases with low level spina bifida, 93 parents of the patients and 129 healthy subjects were analyzed by PCR-RFLP to observe the polymorphism of C677T/A1298C and par- tially were determined by direct DNA sequencing. RESULTS Neither the frequency of TY genotype nor the AA had no signifi- cant difference between the patient group, parents group, and control group. Furthermore, the frequency of T or A allele also had no significant difference between these groups （P 〉 0.05）. CONCLUSION The mutation of C677T and A1298C in MTH- FR gene may not be an independent risk factor of simple low level SB. As a mild phenotype of NTDs, simple low level SB may have different genetic etiology.

关 键 词：神经管缺陷 脊柱裂 亚甲基四氢叶酸还原酶 外显子 多态性 

分 类 号：R682[医药卫生—骨科学]