Molecular genetics of H.

ABSTRACT

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.