The thermolabile variant of methylenetetrahydrofolate reductase (MTHFR) is not a major risk factor for neural tube defect in American Caucasians

被引：44

作者：

Speer, MC ^{[1
]}

Worley, G

Mackey, JF

Melvin, E

Oakes, WJ

George, TM

机构：

[1] Duke Univ, Med Ctr, Dept Med, Durham, NC 27710 USA

[2] Duke Univ, Med Ctr, Dept Pediat, Durham, NC 27710 USA

[3] Duke Univ, Med Ctr, Dept Surg & Pediat, Durham, NC 27710 USA

[4] Univ Alabama, Dept Surg, Birmingham, AL 35233 USA

来源：

NEUROGENETICS | 1997年 / 1卷 / 02期

关键词：

genetics; spina bifida; MTHFR; TDT;

D O I：

10.1007/s100480050022

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：149 / 150

页数：2

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