A 3.5 kb deletion in the glycophorin C gene accounts for the Gerbich‐negative blood group in Melanesians

Publisher Website
Google Scholar
Abstract
Summary: The Gerbich‐negative blood group types are rare in most populations, but reach appreciable frequencies in certain Melanesian groups in Papua New Guinea. The recent cloning of the human glycophorin C (GPC) gene, that encodes Gerbich (Ge) blood group antigens, has facilitated study of its genetic variants. We have obtained partial genomic clones of a normal GPC gene, for molecular analysis of Ge: −1,−2,−3 types in Melanesians, and have shown that a 3.5 kb deletion in the GPC gene that removes all of exon 3 accounts for at least one Gerbich‐negative phenotype in Melanesians. Population distributions of GPC RFLP have shown that the deletion‐type GPC is not confined to mainland Papua New Guinea as previously thought, but occurs sporadically in Melanesians from Fiji as well as in Micronesians.