Molecular genetic analysis of human folate receptors in neural tube defects

European Journal of Human Genetics

Volumn 7, Issue 3, 1999, Pages 393-396

  Heil, Sandra G ^b   Van Der Put, Nathalie M J ^b   Trijbels, Frans J M ^b   Gabreëls, Fons J M ^b   Blom, Henk J ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b NONE

Author keywords

Folate receptor alpha; Folate receptor beta; Molecular genetic analysis; Neural tube defects

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); FOLIC ACID;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DIET SUPPLEMENTATION; EXON; GENETIC POLYMORPHISM; GENETIC RISK; HUMAN; INTRON; MOLECULAR GENETICS; NEURAL TUBE DEFECT; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL; RECEPTOR GENE; SIGNAL TRANSDUCTION; SINGLE STRAND CONFORMATION POLYMORPHISM; SPINA BIFIDA;

ADULT; CARRIER PROTEINS; FEMALE; HUMANS; NEURAL TUBE DEFECTS; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RECEPTORS, CELL SURFACE;

EID: 0032959464     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200305     Document Type: Article

References (15)

1. Copp AJ, Brook FA, Estibeiro JP, Shum ASW, Cockroft DL: The embryonic development of mammalian neural tube defects. Progr Neurobiol 1990; 35: 363-403.
2. MRC Vitamin Study Research Group: Prevention of neural tube defects results of the Medical Research Council vitamin study. Lancet 1991; 338: 131-137.
3. Czeizel AE, Dudas I: Prevention of the first occurrence of neural-tube defects by periconceptional vitamin supplementation. N Engl J Med 1992; 327: 1832-1835.
4. van der Put NMJ, Steegers-Theunissen RPM, Frosst P et al: Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida. Lancet 1995; 346: 1070-1071.
5. Steegers-Theunissen RPM, Boers GJH, Trijbels JMF et al: Maternal hyperhomocysteinemia: a risk factor for neural-tube defects? Metabolism 1994; 43: 1475-1480.
6. van der Put NMJ, Gabreels F, Stevens EMB et al: A second common mutation in the methylenetetrahydrofolate reductase gene: An additional risk factor for neural tube defects? Am J Hum Genet 1998; 62: 1044-1051.
7. Finnell RH, Greer KA, Barber RC, Piedrahita JA: Neural tube and craniofacial defects with special emphasis on folate pathway genes. Crit Rev Oral Biol Med 1998; 9: 38-53.
8. Brigle KE, Westin EH, Houghton MT, Goldman D: Characterization of two cDNAs encoding folate-binding proteins from L1210 murine leukemia cells. J Biol Chem 1991; 266: 17243-17249.
9. Barber RC, Shaw GM, Lammer EJ et al: Lack of association between mutations in the folate receptor-α gene and spina bifida. Am J Med Genet 1998; 76: 310-317.
10. Shen F, Ross JF, Wang X, Ratnam M: Identification of a novel folate receptor, a truncated receptor, and receptor type B in hemapoietic cells: cDNA cloning, expression. immunoreactivity, and tissue specificity. Biochemistry 1994; 33: 1209-1215.
11. Anthony AC: Folate receptors. Annu Rev Nutr 1996; 16: 501-521.
12. Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T: Detection of polymorphisms of human DNA by gel-electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci 1989; 86: 2766-2770.
13. Miller SA, Dykes DD, Polesky HF: A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988; 16: 1215.
14. Hol FA, van der Put NMJ, Geurds MP et al: Molecular genetic analysis of the human trifunctional enzyme MTHFD (methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase-formyltetrahydrofolate synthetase) in the etiology of neural tube defects. Clin Genet 1998; 53: 119-125.
15. Capra V, DeMarco P, Moroni A et al: Mutations of folic acid receptor alpha in neural tube defects. Am J Hum Genet 1997; 61: A149.