Methylenetetrahydrofolate reductase polymorphism in the etiology of down syndrome

被引：43

作者：

Chadefaux-Vekemans, B

Coudé, M

Muller, F

Oury, JF

Chabli, A

Jaïs, JP

Kamoun, P ^{[1
]}

机构：

[1] Hop Necker Enfants Malad, UMR CNRS 8602, Lab Biochim Med B, F-75743 Paris 15, France

[2] Ctr Hosp, Mol Biol Lab, F-72000 Le Mans, France

[3] Hop Robert Debre, Serv Obstet, F-75019 Paris, France

[4] Hop Ambroise Pare, Biochim Lab, F-92100 Boulogne, France

[5] Hop Necker Enfants Malad, F-75743 Paris 15, France

来源：

PEDIATRIC RESEARCH | 2002年 / 51卷 / 06期

关键词：

D O I：

10.1203/01.PDR.0000017484.64723.43

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

A methylenetetrahydrofolate reductase polymorphism (677 C/T mutation) was recently implicated in the etiology of Down syndrome. We studied a cohort of 85 women carrying fetuses with Down syndrome and found no difference in the frequencies of the three groups of subjects (C/C, C/T, T/T) between Down syndrome mothers and controls.

引用

页码：766 / 767

页数：2

共 5 条

[1]

ANTONARAKIS SE, 1992, AM J HUM GENET, V50, P544

[2] HUMAN METHYLENETETRAHYDROFOLATE REDUCTASE - ISOLATION OF CDNA, MAPPING AND MUTATION IDENTIFICATION [J].