Article
Point mutations and deletion responsible for the Bombay H null and the Reunion H weak blood groups.
Vox sanguinis - 1 Jan 1998
Fernandez-Mateos P, Cailleau A, Henry S, Costache M, Elmgren A, Svensson L, Larson G, Samuelsson B E, Oriol R, Mollicone R
Abstract excerpt
OBJECTIVE: Definition of the molecular basis of the Reunion and the Bombay red cell and salivary H-deficient phenotypes. METHODS: Sequence and expression of FUT1 and FUT2 genes from H-deficient individuals. Family segregation analysis of the mutations responsible for the fucosyltransferase defect...
Topics
- ABO Blood-Group System
- Alleles
- Amino Acid Substitution
- Animals
- COS Cells
- Chromosomes, Human, Pair 19
- Evolution, Molecular
- Female
- Fucosyltransferases
- Humans
- India
- Male
- Oligosaccharides
- Pedigree
- Phenotype
- Point Mutation
- Recombinant Fusion Proteins
- Reunion