title: Molecular basis of Bombay phenotype in Mashhad, Iran: identification of a novel FUT1 deletion.
abstract: OBJECTIVE
  Bombay phenotype is characterized by the lack of H substance both on red blood cell (RBC) surface and in body secretions. Mutations of fucosyltransferase 1 (FUT1) and fucosyltransferase 2 (FUT2) genes are resulted in this rare phenotype.
  
  
  METHODS
  Five unrelated patients were tested by hemagglutination and adsorption/elution techniques for the presence of ABH antigens. The saliva specimens were analysed by hemagglutination inhibition method. The exons 6 and 7 of ABO gene were sequenced to determine ABO genotype. The coding fragments of FUT1 and FUT2 were amplified and sequenced by specific primers.
  
  
  RESULTS
  Serologic investigation confirmed Bombay phenotype in all individuals. FUT1 molecular analysis revealed a novel large deletion. Also two novel homozygous mutations were detected; one was a missense mutation (392T>C, L131P) and the other a three nucleotide deletion (668_670delACT, Y224del). FUT2 sequencing showed one reported null allele (428G>A, W143X) and one homozygous deletion of FUT2.
  
  
  CONCLUSIONS
  Although FUT2 deletion has been reported, this is the first report of FUT1 deletion. Finding two FUT1 novel alleles in Iranian people is indicative of mutation diversity in this gene.
authors.affiliation: Mashhad Transfusion Center, Mashhad, Iran.
authors.forename: D S
authors.initials: DS
authors.lastname: Zanjani
authors.affiliation: Deputy of Research, Mashhad University of Medical Sciences, Mashhad, Iran.
authors.forename: M
authors.initials: M
authors.lastname: Afzal Aghaee
authors.affiliation: Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
authors.forename: Z
authors.initials: Z
authors.lastname: Badiei
authors.affiliation: Blood Transfusion Research Center, High Institute for Research and Education in Transfusion Medicine, Tehran, Iran.
authors.forename: R
authors.initials: R
authors.lastname: Mehrasa
authors.affiliation: Cord Blood Stem Cell, Iranian Blood Transfusion Organization, Tehran, Iran.
authors.forename: A
authors.initials: A
authors.lastname: Roodsarabi
authors.affiliation: Mashhad Transfusion Center, Mashhad, Iran.
authors.forename: M E
authors.initials: ME
authors.lastname: Khayyami
authors.affiliation: High Institute for Research and Education in Transfusion Medicine, Tehran, Iran.
authors.forename: M
authors.initials: M
authors.lastname: Shahabi
mesh_terms: D000017:ABO Blood-Group System / Q000378:metabolism*; D000483:Alleles; D000595:Amino Acid Sequence; D000818:Animals; D004247:DNA / Q000032:analysis / Q000378:metabolism; D004912:Erythrocytes / Q000378:metabolism; D005091:Exons; D005647:Fucosyltransferases / Q000737:chemistry / Q000235:genetics*; D005838:Genotype; D006385:Hemagglutination Inhibition Tests; D006720:Homozygote; D006801:Humans; D007492:Iran; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010641:Phenotype; D016133:Polymerase Chain Reaction; D012463:Saliva / Q000378:metabolism; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion; D000097631:Galactoside 2-alpha-L-fucosyltransferase
chemical_list: D000017:ABO Blood-Group System; D004247:DNA; D005647:Fucosyltransferases; D000097631:Galactoside 2-alpha-L-fucosyltransferase
keywords: ABH antigens; Bombay phenotype; FUT1; α-(1,2)-fucosyltransferase 1