Polymorphism of human alpha fucosidase

Area of Science:

• Biochemistry
• Human Genetics
• Population Genetics

Background:

• Alpha fucosidase is an enzyme involved in glycoprotein catabolism.
• Genetic variations in enzymes can impact human health and population diversity.
• Isoelectric focusing is a technique used to separate proteins based on their isoelectric point.

Purpose of the Study:

• To detect and characterize common polymorphisms of human alpha fucosidase.
• To investigate the genetic basis of observed alpha fucosidase phenotypes.
• To determine the allele frequencies of alpha fucosidase in different ethnic groups.

Main Methods:

• Isoelectric focusing on thin layer acrylamide gel was employed to detect enzyme variants.
• Family studies were conducted to establish the inheritance patterns of alpha fucosidase phenotypes.
• Allele frequencies were calculated for white and black populations in New York.

Main Results:

• A common polymorphism in human alpha fucosidase was identified.
• Three phenotypes (Fu 1, Fu 2, Fu 2-1) were observed, corresponding to homozygosity or heterozygosity for two codominant alleles (Fu1 and Fu2).
• Significant differences in allele frequencies were found between white (.753 Fu1, .247 Fu2) and black (.926 Fu1, .074 Fu2) populations.

Conclusions:

• The human alpha fucosidase polymorphism is genetically determined by two autosomal codominant alleles.
• Allele frequencies of alpha fucosidase exhibit ethnic variation.
• This genetic polymorphism provides a marker for population genetic studies.