title: AvaI polymorphism in the human transferrin gene.
abstract: A guanine-adenine substitution was observed in exon 5 of the human transferrin (TF) gene. The nucleotide change led to an AvaI digestion site. Analysis of the segregation of the AvaI polymorphism and serum TF phenotypes indicated that an intragenic recombination occurred between the AvaI polymorphic site and the mutation site in the TF gene which determines the two common TF alleles, TF*C1 and TF*C2.
authors.affiliation: Department of Legal Medicine and Human Genetics, Jichi Medical School, Tochigi-ken, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Tsuchida
authors.forename: S
authors.initials: S
authors.lastname: Ikemoto
authors.forename: E
authors.initials: E
authors.lastname: Kajii
mesh_terms: D019943:Amino Acid Substitution; D015252:Deoxyribonucleases, Type II Site-Specific / Q000235:genetics*; D005091:Exons; D006801:Humans; D010641:Phenotype; D012150:Polymorphism, Restriction Fragment Length; D014168:Transferrin / Q000235:genetics*
chemical_list: D014168:Transferrin; D015252:Deoxyribonucleases, Type II Site-Specific