title: Erythrocyte glycophorin B deficiency may occur by two distinct gene alterations.
abstract: The genomic DNA from rare persons whose erythrocytes are deficient in glycophorin B (GPB) (S-s-U- phenotype), was examined by Southern hybridizations using glycophorin B probes and was subdivided into two main categories. In the type I variant (Fav., M.H., S.K.), we found that the S-s-U- condition is generated by a large gene deletion extending from exons B2 to B4 of glycophorin B gene. Conversely, in the type II variant (Del.), the entire gene is present, and its promoter is almost similar to common Glycophorin A (GPA) and GPB as well as to type I promoters, except for four-point mutations, which do not occur in potential cis-acting elements. We concluded that the same phenotypic glycophorin B deficiency may occur by different gene alterations, including either a gene deletion or a mutation that might alter transcription or translation of the gene.
authors.affiliation: Unité INSERM U76, Institut National de Transfusion Sanguine, Paris, France.
authors.forename: C
authors.initials: C
authors.lastname: Rahuel
authors.forename: J
authors.initials: J
authors.lastname: London
authors.forename: A
authors.initials: A
authors.lastname: Vignal
authors.forename: S K
authors.initials: SK
authors.lastname: Ballas
authors.forename: J P
authors.initials: JP
authors.lastname: Cartron
mesh_terms: D015139:Blotting, Southern; D002872:Chromosome Deletion; D004247:DNA / Q000032:analysis / Q000235:genetics; D004912:Erythrocytes / Q000378:metabolism*; D005091:Exons; D014644:Genetic Variation / Q000235:genetics; D006021:Glycophorins / Q000172:deficiency* / Q000235:genetics; D006801:Humans; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D011401:Promoter Regions, Genetic / Q000235:genetics; D014176:Protein Biosynthesis / Q000235:genetics; D014158:Transcription, Genetic / Q000235:genetics
chemical_list: D006021:Glycophorins; D004247:DNA