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Molecular genetics of H
R Oriol1, J J Candelier, R Mollicone
1INSERM U504, Paris South University XI, Villejuif, France. oriol@infobiogen.fr
Background And Objectives:
Formal genetics of ABO, H-h and Se-se systems illustrate that these three systems are genetically independent
Materials And 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)
Conclusion:
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.