D S Zanjani1, M Afzal Aghaee2, Z Badiei3, R Mehrasa4, A Roodsarabi5, M E Khayyami1, M Shahabi6. 1. Mashhad Transfusion Center, Mashhad, Iran. 2. Deputy of Research, Mashhad University of Medical Sciences, Mashhad, Iran. 3. Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran. 4. Blood Transfusion Research Center, High Institute for Research and Education in Transfusion Medicine, Tehran, Iran. 5. Cord Blood Stem Cell, Iranian Blood Transfusion Organization, Tehran, Iran. 6. High Institute for Research and Education in Transfusion Medicine, Tehran, Iran.
Abstract
BACKGROUND AND OBJECTIVES: 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. MATERIALS AND 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. CONCLUSION: 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.
BACKGROUND AND OBJECTIVES: 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. MATERIALS AND 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. CONCLUSION: 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: Min Sun Kim; Jin Seok Kim; Hyewon Park; Yousun Chung; Hyungsuk Kim; Dae Hyun Ko; Sung Han Kim; Sang Hyun Hwang; Heung Bum Oh Journal: J Korean Med Sci Date: 2019-10-14 Impact factor: 2.153