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Review
. 2000:78 Suppl 2:105-8.

Molecular genetics of H

Affiliations
  • PMID: 10938937
Review

Molecular genetics of H

R Oriol et al. Vox Sang. 2000.

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.

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