Molecular genetics of H

Vox Sang. 2000:78 Suppl 2:105-8.

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • ABO Blood-Group System / genetics*
  • Animals
  • Family Health
  • Fucosyltransferases / deficiency
  • Fucosyltransferases / genetics
  • Galactoside 2-alpha-L-fucosyltransferase
  • Humans
  • Mutation
  • Polymorphism, Genetic / genetics

Substances

  • ABO Blood-Group System
  • Fucosyltransferases