title: Association between alleles of the transforming growth factor alpha locus and cleft lip and palate in the Chilean population.
abstract: Two RFLPs at the TGFA locus were studied in 39 unrelated Chilean (Caucasoid-Mongoloid) patients with non-syndromic cleft lip/palate [CL(P)] and 51 control individuals. A highly significant association between BamHI A2 allele and CL(P) was detected (chi 2 = 6.00; P = 0.014), while no association was found between TaqI RFLPs and clefting. No significant differences were found when comparing genotypes by type of cleft and a positive or negative family history of clefting. Our results seem to support rather definitively the association between TGFA and clefting but do not support the hypothesis that TGFA is a major causal gene of CL(P).
authors.affiliation: Department of Cell Biology and Genetics, Faculty of Medicine, University of Chile, Santiago.
authors.forename: L
authors.initials: L
authors.lastname: Jara
authors.forename: R
authors.initials: R
authors.lastname: Blanco
authors.forename: I
authors.initials: I
authors.lastname: Chiffelle
authors.forename: H
authors.initials: H
authors.lastname: Palomino
authors.forename: H
authors.initials: H
authors.lastname: Carreño
mesh_terms: D000483:Alleles; D002677:Chile; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D004247:DNA / Q000032:analysis; D005260:Female; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008297:Male; D012150:Polymorphism, Restriction Fragment Length; D016211:Transforming Growth Factor alpha / Q000235:genetics*
chemical_list: D016211:Transforming Growth Factor alpha; D004247:DNA