title: A novel sequence polymorphism in exon 8 of the human vitamin D-binding protein (GC) gene in an African population.
abstract: A novel sequence polymorphism due to a T to C transition at the third nucleotide of the codon for Cys283 of the vitamin D-binding protein (GC) gene assigned to chromosome 4q13-4q21.1 was revealed by sequence analysis. Population studies by single strand conformation polymorphism (SSCP) analysis showed this GC-283.3 site was polymorphic in a Black African population but monomorphic in a European population.
authors.affiliation: Department of Legal Medicine, Tottori University School of Medicine, Yonago, Japan.
authors.forename: I
authors.initials: I
authors.lastname: Yuasa
authors.forename: A
authors.initials: A
authors.lastname: Kofler
authors.forename: A
authors.initials: A
authors.lastname: Braun
authors.forename: R
authors.initials: R
authors.lastname: Bichlmaier
authors.forename: S
authors.initials: S
authors.lastname: Kammerer
authors.forename: H
authors.initials: H
authors.lastname: Cleve
mesh_terms: D001483:Base Sequence; D044383:Black People / Q000235:genetics*; D002894:Chromosomes, Human, Pair 4; D005091:Exons; D005787:Gene Frequency; D006801:Humans; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D014809:Vitamin D-Binding Protein / Q000235:genetics*
chemical_list: D014809:Vitamin D-Binding Protein