Point mutations and deletion responsible for the Bombay H null and the Reunion H weak blood groups.

• 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 defects of H, secretor and Lewis systems. RESULTS: The Indian red cell H null Bombay phenotype depends on a new mutation of the FUT1 gene. T725-->G changing Leu242-->Arg. Their salivary nonsecretor phenotype is secondary to a complete deletion of the FUT2 gene. The red cell H weak Reunion phenotype depends on another new mutation of FUT1, C349-->T which induces a change of His117-->Tyr. Their salivary nonsecretor phenotype is due to the known Caucasian inactivating mutation G428-->A. CONCLUSION: Single prevalent FUT1 and FUT2 point mutations and a deletion are responsible for the Indian Bombay H null and the Reunion H weak phenotypes found on Reunion island. This is in contrast with other H-deficient phenotypes where sporadic nonprevalent inactivating mutations are the rule.

Ämnesord

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Annan klinisk medicin (hsv//swe)

MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Other Clinical Medicine (hsv//eng)

Nyckelord

ABO Blood-Group System

biosynthesis

Alleles

Amino Acid Substitution

Animals

COS Cells

Chromosomes

Human

Pair 19

genetics

Evolution

Molecular

Female

Fucosyltransferases

genetics

Humans

India

Male

Oligosaccharides

metabolism

Pedigree

Phenotype

Point Mutation

Recombinant Fusion Proteins

biosynthesis

Reunion

Saliva

immunology

Salivary Proteins and Peptides

biosynthesis

immunology

secretion

Sequence Deletion

Transfection

Publikations- och innehållstyp

ref (ämneskategori)

art (ämneskategori)