Frequency And Molecular Genetical Characteristics Of H Deficient Phenotype

Objective 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 serology and identified with sequence specific primer polymerase chain reaction(PCR-SSP). FUT1 and FUT2 gene sequences were analyzed with direct sequencing of PCR products and gene clonoing pruoducts.Result Of 85 390 blood donors, ten individuals were identified to be para-Bombay phenotype, Four h alleles were observed from 14 para-Bombay phenotype individuals, i.e. h1(nt547-552Δag), h2(nt880-882Δtt), h3(nt658c→t)and hnew-2(nt328g→a). The FUT1 genotypes of these para-Bombay individuals were h1/h1(6 individuals), h1/h2(7 individuals) and h3/hnew2(1 individual),and the frequency of 4 allele were 67.85%(h1),25%(h2), 3.57% (h3), 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 in 37℃, 7 individuals had active anti-H antibody in 37℃.Conclusion The frequency of H deficient phenotype in Fujian population is about 1:8 500. The h1 and h2 alleles are predominate in Fujian H deficient individuals on h1- Se357 and h2-Se357,716 haplotype background.