title: Transforming growth factor-alpha: characterization of the BamHI, RsaI, and TaqI polymorphic regions.
abstract: We have characterized the nature of structural alleles of the transforming growth factor-alpha (TGF alpha) locus by restriction-enzyme digestion with BamHI, RsaI, and TaqI. The BamHI polymorphic site is located within exon VI, which codes for the 3' untranslated region. The two BamHI alleles differ by a single point mutation at the restriction site. The RsaI and TaqI polymorphic sites are located within intron V. The two alleles differ at the restriction site, either by a point mutation (RsaI) or by a 4-bp deletion (TaqI). This analysis permits us to devise a PCR method coupled with restriction digestions to directly identify the TGF alpha polymorphisms. Analysis of 99 Caucasian controls has revealed a highly significant (P < .001) association between the RsaI and the BamHI genotype. The frequency of the rare BamHI allele was significantly higher (P < .001) in transformed cell lines (.30) than in controls (.076).
authors.affiliation: Centre National de la Recherche Scientifique, Institut de Recherches Scientifiques sur le Cancer, Villejuif, France.
authors.forename: J F
authors.initials: JF
authors.lastname: Qian
authors.forename: J
authors.initials: J
authors.lastname: Feingold
authors.forename: C
authors.initials: C
authors.lastname: Stoll
authors.forename: E
authors.initials: E
authors.lastname: May
mesh_terms: D000483:Alleles; D001483:Base Sequence; D004247:DNA; D015245:Deoxyribonuclease BamHI; D015252:Deoxyribonucleases, Type II Site-Specific; D005091:Exons; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D016211:Transforming Growth Factor alpha / Q000235:genetics*; D014407:Tumor Cells, Cultured
chemical_list: D016211:Transforming Growth Factor alpha; D004247:DNA; D015245:Deoxyribonuclease BamHI; D015252:Deoxyribonucleases, Type II Site-Specific; C040158:GTAC-specific type II deoxyribonucleases; C027046:TCGA-specific type II deoxyribonucleases