title: A 3.5 kb deletion in the glycophorin C gene accounts for the Gerbich-negative blood group in Melanesians.
abstract: 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.
authors.affiliation: Human Genetics Group, John Curtin School of Medical Research, Australian National University, Canberra.
authors.forename: S W
authors.initials: SW
authors.lastname: Serjeantson
authors.forename: B S
authors.initials: BS
authors.lastname: White
authors.forename: K
authors.initials: K
authors.lastname: Bhatia
authors.forename: R J
authors.initials: RJ
authors.lastname: Trent
mesh_terms: D001457:Anion Exchange Protein 1, Erythrocyte / Q000235:genetics; D001789:Blood Group Antigens / Q000235:genetics*; D015139:Blotting, Southern; D004247:DNA / Q000235:genetics; D004612:Elliptocytosis, Hereditary / Q000235:genetics; D004912:Erythrocytes / Q000737:chemistry; D005260:Female; D017353:Gene Deletion; D005838:Genotype; D006021:Glycophorins / Q000235:genetics*; D006801:Humans; D008297:Male; D008542:Melanesia; D008970:Molecular Weight; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction
chemical_list: D001457:Anion Exchange Protein 1, Erythrocyte; D001789:Blood Group Antigens; D006021:Glycophorins; D004247:DNA