Screening of the C677T mutation on the methylenetetrahydrofolate reductase gene in French patients with neural tube defects

被引：68

作者：

Mornet, E

Muller, F

LenvoiseFuret, A

Delezoide, AL

Col, JY

SimonBouy, B

Serre, JL

机构：

[1] UNIV VERSAILLES,SESEP,CTR ETUD BIOL PRENATALE,F-78000 VERSAILLES,FRANCE

[2] HOP AMBROISE PARE,BIOCHIM LAB,BOULOGNE,FRANCE

[3] HOP NECKER ENFANTS MALAD,UNITE FOETOPATHOL,PARIS,FRANCE

[4] CTR HOSP,LE HAVRE,FRANCE

来源：

HUMAN GENETICS | 1997年 / 100卷 / 5-6期

关键词：

D O I：

10.1007/s004390050544

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report the analysis of the distribution of the C677T mutation on the methylenetetrahydrofolate reductase (MTHFR) gene in prenatally diagnosed neural tube defects (NTD) cases and controls. In contrast to previous reports, we found the same distribution in fetuses with NTD and controls, which suggests that the MTHFR C677T mutation cannot be regarded as a genetic risk factor for NTD.

引用

页码：512 / 514

页数：3

共 12 条

[1] Spina bifida, 677T->C mutation, and role of folate
deFranchis, R
Sebastio, G
Mandato, C
Andria, G
Mastroiacovo, P
[J]. LANCET, 1995, 346 (8991-2) : 1703 - 1703
[2] A CANDIDATE GENETIC RISK FACTOR FOR VASCULAR-DISEASE - A COMMON MUTATION IN METHYLENETETRAHYDROFOLATE REDUCTASE
FROSST, P
BLOM, HJ
MILOS, R
GOYETTE, P
SHEPPARD, CA
MATTHEWS, RG
BOERS, GJH
DENHEIJER, M
KLUIJTMANS, LAJ
VANDENHEUVEL, LP
ROZEN, R
[J]. NATURE GENETICS, 1995, 10 (01) : 111 - 113
[3] Goyette P, 1996, AM J HUM GENET, V59, P1268
[4] Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocysteine concentrations
Jacques, PF
Bostom, AG
Williams, RR
Ellison, RC
Eckfeldt, JH
Rosenberg, IH
Selhub, J
Rozen, R
[J]. CIRCULATION, 1996, 93 (01) : 7 - 9
[5] KANG SS, 1991, AM J HUM GENET, V48, P536
[6] Ou C.-Y., 1995, American Journal of Human Genetics, V57, pA223
[7] Is mutated MTHFR a risk factor for neural tube defects?
Posey, DL
Khoury, MJ
Mulinare, J
Adams, MJ
Ou, CY
[J]. LANCET, 1996, 347 (9002) : 686 - 687
[8] STEVENSON RE, 1997, AM J HUM GENET, V60, P230
[9] Trembath D., 1996, American Journal of Human Genetics, V59, pA144
[10] VANDERPUT NMJ, 1995, LANCET, V346, P70

← 1 2 →