I. Yuasa et al., A NOVEL SEQUENCE POLYMORPHISM IN EXON-8 OF THE HUMAN VITAMIN-D-BINDING PROTEIN (GC) GENE IN AN AFRICAN POPULATION, JPN J HUM G, 40(1), 1995, pp. 149-151
A novel sequence polymorphism due to a T to C transition at the third
nucleotide to the codon for Cys(283) 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 polymorphis
m (SSCP) analysis showed this GC-283.3 site was polymorphic in a black
African population but monomorphic in a European population.