The Genotyping of the Secretory Gene (Sec2) in the Korean Population / 대한임상병리학회지

ABSTRACT

BACKGROUND: The expression and secretion of ABH antigens in epithelial cells of glands are controlled by secretor type alpha (1,2)fucosyltrasnferase activity and the human secretor alpha (1,2)fucosyltransferase gene (Sec2) determines the ABH secretor status and influences the Lewis phenotype of an individual. Homozygosity of the mutation for this allele is responsible for the nonsecretor phenotype in nonsecretor individual. The aim of this study was to investigate the status and the distribution of the Sec2 genotype in the Korean population. METHODS: In order to explore the secretory genotypes of the Korean population, the 158 specimens were analyzed by the PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) method designed for the detection of the A385T, the C357T and the G428A mutations of Se alleles. RESULTS: The frequencies of Se1, Se2 and sej among 316 alleles examined in a random sample of 158 Korean individuals were 11.1%, 40.5% and 48.4%. The frequencies of Se1/Se1, Se1/Se2, Se2/Se2, Se1/sej, Se2/sej and sej/sej among 158 genotypes were 3.2%, 3.2%, 20.3%, 12.7%, 37.3% and 23.4%. The G428A nonsense mutation discovered in the Sec2 gene of nonsecretors in Caucasian was not found in any of 158 Korean population. CONCLUSIONS: The distribution of the genotypes of the Sec2 gene in the Korean population showed a rather wide distribution of the sej allele than the Caucasian population and was similar to the Japanese population. PCR-RFLP method can be effectively used for the genotyping of the Sec2 gene.