The polymorphisms of fucosyltransferases

Area of Science:

• Genetics and Molecular Biology
• Immunology
• Population Genetics

Background:

• The alpha(1,2)fucosyltransferase (Se) enzyme is crucial for expressing ABH antigens in bodily secretions.
• Individuals are classified as secretors (expressing ABH antigens) or non-secretors (lacking them) based on functional FUT2 alleles.
• Polymorphisms in the FUT2 gene exhibit ethnic specificity, influencing the distribution of non-functional 'se' alleles.

Purpose of the Study:

• To investigate the ethnic specificity of FUT2 null alleles.
• To understand the absence of the se(428) null allele in Asian populations.
• To characterize polymorphisms in related fucosyltransferase genes (FUT1, FUT3, FUT6).

Main Methods:

• Molecular analysis of FUT2 gene polymorphisms across diverse ethnic groups.
• Population genetic studies to determine gene frequencies.
• Analysis of polymorphisms in FUT1, FUT3, and FUT6 genes.

Main Results:

• The null allele se(428) is prevalent in Africans and Caucasians but absent in Asians.
• A distinct null allele, se(357,385), is specific to Asian populations.
• The gene frequencies for these specific null alleles approach 0.5 in their respective populations.
• Polymorphisms were identified in FUT1, FUT3, and FUT6 genes.

Conclusions:

• The distribution of FUT2 null alleles demonstrates significant ethnic specificity.
• The absence of se(428) in Asians and the presence of se(357,385) warrant further investigation.
• Polymorphisms in FUT1, FUT3, and FUT6 may also have population-specific characteristics.