MOLECULAR GENETIC ANALYSIS OF THE FUT2 GENE

BIONDI C; VALDEZ V; RACCA A; GARCÍA BORRÁS S; RACCA L; COTORRUELO C

Madrid - España

Congreso; XVII Regional Congress of the ISBT Europe; 2007

International Society of Blood Transfusion

Background: The Lewis histo-blood group system comprises two major antigens, Lewis a and Lewis b. The Lewis b antigen is a product of two fucosyltransferases, the (1,3/1,4)fucosyltransferase (Lewis enzyme; Fuc-TIII) encoded by the Lewis gene and an (1,2)fucosyltransferase which is not required for synthesis of Lewis a antigen. The secretor status is determinate by the secretor gene (Se o FUT2) responsible of the ABH antigens expression in human secretions. The Lewis phenotype of an individual is influenced by the secretor status. About 20%-25% of Caucasian individuals are non-secretors. Aim: to study the allelic varieties of the FUT2 gene by a PCR reaction. Methods: We worked with peripheral blood samples of volunteers (n=108). We determinated the secretor status in plasma with the hemagglutination inhibition technique. The genomic DNA was extracted by an enzymatic digestion method and was analyzed by ASA-PCR with specific primers for the G428A allele and for the wild type allele of the FUT2 gene. The PCR products (132 bp) were analyzed in 2-percent agarose gel containing ethidium bromide. Results: The results obtained by serologic and molecular methods showed that the 77-percent of the investigate individuals were secretors. The G428A polymorphism had present in a 7.5-percent, smaller value to report in the bibliography for the Caucasian population. The allelic varieties of the other non-secretor individuals different to the G428A might to correspond to other mutations. Conclusions:The molecular analysis of the FUT2 gene confirm the genetic diversity of the investigated population and might to be utilized the same as a population marker.