Two Cases of Duplication of the 1F and 1A2 Genes in the Vitamin D-Binding Protein (GC) System
GC polymorphism in Japan is a bit unique in distribution of the phenotypes, because a variant allele(1A2) also retains in a polymorphic frequency (around 0.02) in addition to the three common alleles(GC 1F,1S & 2). Recently Yasuda et al. (1989)1) found a new GC variant, GC 2-1F1A2, which is characterized by having double double-banded components with a common GC 2 band by PAGIF, and presumed it had arisen from duplication of the GC 1F and 1A2 genes. Later the same variant type was observed by others 2) – 4) in Japanese populations, and it is estimated such duplication is occurring with a frequency of 0.001 2). However, the variant has sofar been identified only in the samples with GC 2.
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