Molecular genetics analysis and frequency survey of H deficient phenotype / 中国输血杂志

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 18 500.The h1 and h2 alleles are predominant in Fujian H deficient individuals on h1-Se~(357) and h2-Se~(357,716) haplotype background.