Molecular Genetics of H

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...

Full description

Saved in:
Bibliographic Details
Published in:Vox sanguinis 2000-01, Vol.78 (S2), p.105-108
Main Authors: Oriol, Rafael, Candelier, Jean‐Jacques, Mollicone, Rosella
Format: Article
Language:English
Subjects:
ABO Blood-Group System - genetics
Animals
Biological and medical sciences
Family Health
Fucosyltransferases - deficiency
Fucosyltransferases - genetics
Fundamental and applied biological sciences. Psychology
Fundamental immunology
Galactoside 2-alpha-L-fucosyltransferase
Humans
Immunohematology
Mutation
Polymorphism, Genetic - genetics
Red blood cell immunology
Citations: Items that this one cites
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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
ISSN:0042-9007
1423-0410
DOI:10.1111/j.1423-0410.2000.tb00046.x