Speer M C, Worley G, Mackey J F, Melvin E, Oakes W J, George T M
Department of Medicine, Duke University Medical Center, Durham, NC 27710, USA.
Neurogenetics. 1997 Sep;1(2):149-50. doi: 10.1007/s100480050022.
Mutations in the gene for methylenetetrahydrofolate reductase (MTHFR) have been implicated as a risk factor in the formation of neural tube defects. We investigated this gene in a series of 65 sporadic American Caucasian patients with lumbosacral NTD and their unaffected parents, using both case-control design and assessment of linkage disequilibrium. We found no evidence to support mutations in MTHFR as a significant risk factor for NTD in this population.
亚甲基四氢叶酸还原酶（MTHFR）基因的突变被认为是神经管缺陷形成的一个风险因素。我们采用病例对照设计和连锁不平衡评估方法，对65例患有腰骶部神经管缺陷的散发性美国白种人患者及其未受影响的父母进行了该基因研究。我们没有发现证据支持MTHFR基因的突变是该人群神经管缺陷的一个重要风险因素。
