title: DNA polymorphisms and haplotypes in the human transferrin gene.
abstract: Although a large number of human serum transferrin (TF) variants have been described, only one RFLP (AvaI) has so far been found. Here we report three new RFLPs (MvaI in intron 5 and exon 7, BbvI in exon 7) and correlations between RFLPs and between RFLPs and serum TF types. There were strong, but not always complete, disequilibria between RFLP and serum protein alleles. Thus, the most common serum TF variant, C1, was heterogeneous and could be subdivided into two common haplotypes, whereas the C2, C3, and DCHI variants were completely or almost completely (C2) homogeneous. There was a total genotypic agreement between the BbvI polymorphism and the presence/absence of the TF C3 variant, and the mutation that creates the BhvI site was found to lead to a G258S amino acid substitution.
authors.affiliation: Department of Oncology, Umeå University, Sweden.
authors.forename: L E
authors.initials: LE
authors.lastname: Beckman
authors.forename: G F
authors.initials: GF
authors.lastname: Van Landeghem
authors.forename: C
authors.initials: C
authors.lastname: Sikström
authors.forename: L
authors.initials: L
authors.lastname: Beckman
mesh_terms: D004247:DNA / Q000032:analysis*; D015257:DNA-Cytosine Methylases; D015252:Deoxyribonucleases, Type II Site-Specific; D005787:Gene Frequency; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D014168:Transferrin / Q000235:genetics*
chemical_list: D014168:Transferrin; D004247:DNA; C029528:DNA modification methylase EcoRII; D015257:DNA-Cytosine Methylases; C028678:CYCGRG-specific type II deoxyribonucleases; D015252:Deoxyribonucleases, Type II Site-Specific