Article
Erythrocyte glycophorin B deficiency may occur by two distinct gene alterations.
American journal of hematology - 1 May 1991
Rahuel C, London J, Vignal A, Ballas S K, Cartron J P
Abstract excerpt
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...
Topics
- Blotting, Southern
- Chromosome Deletion
- DNA
- Erythrocytes
- Exons
- Genetic Variation
- Glycophorins
- Humans
- Mutation
- Phenotype
- Promoter Regions, Genetic
- Protein Biosynthesis