ABSTRACT
Objective To survey the frequency of H deficient phenotype in blood donor population and analyze the serological and genetic characteristics of these individuals.Methods The H deficient phenotype was screened with anti-H monoclonal antibody.The ABO type was screened with serological method and with sequence specific primer polymerase chain reaction(PCR-SSP).FUT1 and FUT2 gene sequences were analyzed with direct sequencing of PCR products and gene cloning products.Result Of 85 390 blood donors,ten individuals were identified to be para-Bombay phenotype.Four h alleles were found in 14 para-Bombay phenotype individuals,h1(nt547-552?ag),h2(nt880-882?tt),h3(nt658c→t),and h_(new-2)(nt328g→a).The FUT1 genotypes of these para-Bombay individuals were h1/h1(6 individuals),h1/h2(7 individuals) and h3/h_(new2)(1 individual),and the frequency of 4 allele were 67.85%(h1),25%(h2),3.57%(h3),and 3.57%(h_(new-2)),respectively.FUT2 gene was analyzed in 12 para-Bombay phenotype individuals,and a mutation of nt357c→t was detected in all FUT2 gene,another mutation of nt716g→a were heterozygous in 5 individuals with h1/h2 genotype.No null FUT2 gene was detected.In serological analysis,all atypical anti-A or anti-B antibody of 14 para-Bombay individuals were inactive at 37℃,7 individuals had active anti-H antibody at 37℃.Conclusion The frequency of H deficient phenotype in Fujian population is about 1:8 500.The h1 and h2 alleles are predominant in Fujian H deficient individuals on h1-Se~(357) and h2-Se~(357,716) haplotype background.
ABSTRACT
BACKGROUND: The distinction between secretors and nonsecretors of ABH and Lewis substances is made by inhibiting an antiserum agglutinin reaction with saliva, but many variables such as ethnic group, Lewis and ABO genotype, saliva collection method and antiserum influence the detection of salivary substances. Human secretor (1,2) fucosyltransferase (FUT II) gene determines the ABH secretor status and influences the Lewis phenotype of an individual. The aim of this study is to comparison between the genotype of the secretory (FUT II) gene and the secretory phenotype of the saliva and evaluate the usefulness of genotyping secretory gene. METHOD: In order to explore the secretory genotypes, the 79 specimens were analyzed by the PCR-RFLP method designed for the detection of the A385T, the C357T and the G428A mutations of FUT II gene. Also, we performed secretory phenotyping of the saliva by hemagglutination inhibition test and compared between the genotype of FUT II gene and secretory phenotype of the saliva. RESULT: The frequencies of Se1, Se2 and sej among 158 alleles examined in a random sample 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 frequencies of Secretor and nonsecretor phenotypes were 76.6% and 23.4%. There were 3 mismatch individuals between phenotype and genotype, all three cases were nonsecretor in phenotype but secretor (Se1/Se1, Se1/Se2, Se2/sej) in genotype. CONCLUSION: PCR-RFLP method can be effectively used for the genotyping of the FUT II gene and offer an attractive alternative to the phenotype of secretor state using saliva.
Subject(s)
Humans , Alleles , Ethnicity , Genotype , Hemagglutination Inhibition Tests , Phenotype , SalivaABSTRACT
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.