Erythrocyte glycophorin B deficiency may occur by two distinct gene alterations.
Am J Hematol
; 37(1): 57-8, 1991 May.
Article
en En
| MEDLINE
| ID: mdl-2024643
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.
Buscar en Google
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Glicoforinas
/
Eritrocitos
Límite:
Humans
Idioma:
En
Revista:
Am J Hematol
Año:
1991
Tipo del documento:
Article
País de afiliación:
Francia
Pais de publicación:
Estados Unidos