title: Genetic variation in transforming growth factor alpha: possible association of BamHI polymorphism with bilateral sporadic cleft lip and palate.
abstract: Non-syndromic cleft lip with or without cleft palate (CL/P) is one of the most common birth defects affecting 1/1000 Caucasians. Genetic factors are thought to contribute to the development of this disorder. A significant association between two restriction fragment length polymorphisms, the TGF alpha TaqI 2.7-kb allele and the TGF alpha BamHI 40-kb allele, at the transforming growth factor alpha (TGF alpha) locus and the occurrence of clefting has previously been reported. A total of 98 Caucasian patients of Alsacian ancestry was recruited from our registry of congenital malformations. These patients had isolated CL/P but no other anomalies. In addition 57 patients with cleft palate, but without cleft lip, were studied. A control group comprised 99 unrelated healthy Caucasians of the same Alsacian ancestry. TaqI and BamHI identify two-allele polymorphisms. The TGFA Taq and BamHI alleles showed no significant association with the presence of clefting, the only exception being that the BamHI 10.0-kb allele was significantly more frequent in patients with bilateral CL/P.
authors.affiliation: Institut de Puériculture, Centre Hospitalo-Universitaire, Strasbourg, France.
authors.forename: C
authors.initials: C
authors.lastname: Stoll
authors.forename: J F
authors.initials: JF
authors.lastname: Qian
authors.forename: J
authors.initials: J
authors.lastname: Feingold
authors.forename: P
authors.initials: P
authors.lastname: Sauvage
authors.forename: E
authors.initials: E
authors.lastname: May
mesh_terms: D002648:Child; D002675:Child, Preschool; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D015245:Deoxyribonuclease BamHI / Q000378:metabolism; D014644:Genetic Variation; D006801:Humans; D007223:Infant; D012150:Polymorphism, Restriction Fragment Length; D016211:Transforming Growth Factor alpha / Q000235:genetics*
chemical_list: D016211:Transforming Growth Factor alpha; D015245:Deoxyribonuclease BamHI