Molecular genetics of H.
OBJECTIVE
Formal genetics of ABO, H-h and Se-se systems illustrate that these three systems are genetically independent


METHODS
Population analysis of phenotypes and family segregation of the ABH related genetic markers


RESULTS
Inactivating mutations of FUT1 and FUT2 are compatible with a structural gene model assuming that FUT1 and FUT2 genes encode for two distinct enzymes, one encoding for the H antigen expressed in red cells (FUT1) and the other encoding for the H gene expressed in saliva (FUT2)


CONCLUSIONS
Most inactivating mutations of FUT1 and FUT2 genes are located in the coding region of the genes and are nonprevalent sporadic mutations of relative recent appearance.
INSERM U504, Paris South University XI, Villejuif, France. oriol@infobiogen.fr
R
R
Oriol
J J
JJ
Candelier
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R
Mollicone
D000017:ABO Blood-Group System / Q000235:genetics*; D000818:Animals; D005192:Family Health; D005647:Fucosyltransferases / Q000172:deficiency / Q000235:genetics; D006801:Humans; D009154:Mutation; D011110:Polymorphism, Genetic / Q000235:genetics; D000097631:Galactoside 2-alpha-L-fucosyltransferase
D000017:ABO Blood-Group System; D005647:Fucosyltransferases; D000097631:Galactoside 2-alpha-L-fucosyltransferase