Study of folate receptor genes in nonsyndromic familial and sporadic cleft lip with or without clef palate cases

American Journal of Medical Genetics

Volumn 132 A, Issue 3, 2005, Pages 302-304

  Scapoli, Luca ^a,b,d   Marchesini, Jlenia ^a   Martinelli, Marcella ^a   Pezzetti, Furio ^b   Carinci, Francesco ^a   Palmieri, Annalisa ^b   Rullo, Rosario ^c   Gombos, Fernando ^c   Tognon, Mauro ^a   Carinci, Paolo ^b  

^a UNIVERSITY OF FERRARA   (Italy)

^b UNIVERSITY OF BOLOGNA   (Italy)

^c SECOND UNIVERSITY OF NAPLES   (Italy)

^d Sez Istologia ed Embriologia   (Italy)

Author keywords

Folate pathway; Folic acid; FOLR1; FOLR2; Orofacial cleft

Indexed keywords

5 METHYLTETRAHYDROFOLIC ACID; FOLATE RECEPTOR;

CLEFT LIP; CLEFT PALATE; CONFERENCE PAPER; FAMILIAL DISEASE; FEMALE; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENETIC DISORDER; GENETIC MARKER; HUMAN; ITALY; MALE; PEDIGREE; POLYMERASE CHAIN REACTION; POPULATION; PRIORITY JOURNAL; PSEUDOGENE;

CARRIER PROTEINS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 11; CLEFT LIP; CLEFT PALATE; FAMILY HEALTH; FEMALE; HUMANS; LINKAGE DISEQUILIBRIUM; LOD SCORE; MALE; MICROSATELLITE REPEATS; MULTIGENE FAMILY; PEDIGREE; RECEPTORS, CELL SURFACE; SYNDROME;

EID: 19944430048     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30469     Document Type: Conference Paper

References (16)

1. Broman KW, Murray JC, Sheffield VC, White RL, Weber JL. 1998. Comprehensive human genetic maps: Individual and sex-specific variation in recombination. Am J Hum Genet 63:861-869.
2. Calvert H. 1999. An overview of folate metabolism: Features relevant to the action and toxicities of antifolate anticancer agents. Semin Oncol 26:3-10.
3. Czeizel AE. 2000. Primary prevention of neural-tube defects and some other major congenital abnormalities: Recommendations for the appropriate use of folic acid during pregnancy. Paediatr Drugs 2:437-449.
4. Henriques C, Trugo NM. 1996. Partial characterization of folate uptake in microvillous membrane vesicles isolated from human placenta. Braz J Med Biol Res 29:1583-1591.
5. Itikala PR, Watkins ML, Mulinare J, Moore CA, Liu Y. 2001. Maternal multivitamin use and orofacial clefts in offspring. Teratology 63:79-86.
6. Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES. 1996. Parametric and nonparametric linkage analysis: A unified multipoint approach. Am J Hum Genet 58:1347-1363.
7. Martinelli M, Scapoli L, Pezzetti F, Carinci F, Carinci P, Stabellini G, Bisceglia L, Gombos F, Tognon M. 2001. C677T variant form at the MTHFR gene and CL/P: A risk factor for mothers? Am J Med Genet 98:357-360.
8. Moreno LM, Arcos-Burgos M, Marazita ML, Krahn K, Maher BS, Cooper ME, Valencia-Ramirez CR, Lidral AC. 2004. Genetic analysis of candidate loci in non-syndromic cleft lip families from Antioquia-Colombia and Ohio. Am J Med Genet 125A:135-144.
9. Pezzetti F, Martinelli M, Scapoli L, Carinci F, Palmieri A, Marchesini J, Carinci P, Caramelli E, Rullo R, Gombos F, Tognon M. 2004. Maternal MTHFR variant forms increase the risk in offspring of isolated non-syndromic cleft lip with or without cleft palate. Hum Mutat 24:104-105.
10. Prescott NJ, Lees MM, Winter RM, Malcolm S. 2000. Identification of susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a two stage genome scan of affected sib-pairs. Hum Genet 106:345-350.
11. Scapoli C, Collins A, Martinelli M, Pezzetti F, Scapoli L, Tognon M. 1999. Combined segregation and linkage analysis of nonsyndromic orofacial cleft in two candidate regions. Ann Hum Genet 63:17-25.
12. Shaw GM, Lammer EJ, Wasserman CR, O'Malley CD, Tolarova MM. 1995. Risks of orofacial clefts in children born to women using multivitamins containing folic acid periconceptionally. Lancet 346:393-396.
13. Shen F, Wu M, Ross JF, Miller D, Ratnam M. 1995. Folate receptor type gamma is primarily a secretory protein due to lack of an efficient signal for glycosylphosphatidylinositol modification: Protein characterization and cell type specificity. Biochemistry 34:5660-5665.
14. Shotelersuk V, Ittiwut C, Siriwan P, Angspatt A. 2003. Maternal 677CT/ 1298AC genotype of the MTHFR gene as a risk factor for cleft lip. J Med Genet 40:e64.
15. Trembath D, Sherbondy AL, Vandyke DC, Shaw GM, Todoroff K, Lammer EJ, Finnell RH, Marker S, Lerner G, Murray JC. 1999. Analysis of select folate pathway genes, PAX3, and human T in a Midwestern neural tube defect population. Teratology 59:331-341.
16. Will M, Barnard JA, Said HM, Ghishan FK. 1985. Fetal hydantoin syndrome: Inhibition of placental folic acid transport as a potential mechanism for fetal growth retardation in the rat. Res Commun Chem Pathol Pharmacol 48:91-98.