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.


CONCLUSIONS
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.
Fernandez-Mateos
P
P
INSERM U178, Villejuif, France.
Cailleau
A
A
Henry
S
S
Costache
M
M
Elmgren
A
A
Svensson
L
L
Larson
G
G
Samuelsson
B E
BE
Oriol
R
R
Mollicone
R
R
D000017:ABO Blood-Group System / Q000096:biosynthesis*; D000483:Alleles; D019943:Amino Acid Substitution; D000818:Animals; D019556:COS Cells; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics; D019143:Evolution, Molecular; D005260:Female; D005647:Fucosyltransferases / Q000235:genetics*; D006801:Humans; D007194:India; D008297:Male; D009844:Oligosaccharides / Q000378:metabolism; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D011993:Recombinant Fusion Proteins / Q000096:biosynthesis; D017508:Reunion; D012463:Saliva / Q000276:immunology; D012471:Salivary Proteins and Peptides / Q000096:biosynthesis / Q000276:immunology / Q000378:metabolism; D017384:Sequence Deletion; D014162:Transfection; D000097631:Galactoside 2-alpha-L-fucosyltransferase
D000017:ABO Blood-Group System; D005647:Fucosyltransferases; D009844:Oligosaccharides; D011993:Recombinant Fusion Proteins; D012471:Salivary Proteins and Peptides; D000097631:Galactoside 2-alpha-L-fucosyltransferase