Premium
Molecular basis of Bombay phenotype in Mashhad, Iran: identification of a novel FUT 1 deletion
Author(s) -
Zanjani D. S.,
Afzal Aghaee M.,
Badiei Z.,
Mehrasa R.,
Roodsarabi A.,
Khayyami M. E.,
Shahabi M.
Publication year - 2016
Publication title -
vox sanguinis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.68
H-Index - 83
eISSN - 1423-0410
pISSN - 0042-9007
DOI - 10.1111/vox.12393
Subject(s) - biology , fucosyltransferase , missense mutation , phenotype , gene , allele , genetics , microbiology and biotechnology , genotype , abo blood group system , mutation , exon , hemagglutination , antigen
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 ( FUT 1) and fucosyltransferase 2 ( FUT 2) 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 FUT 1 and FUT 2 were amplified and sequenced by specific primers. Results Serologic investigation confirmed Bombay phenotype in all individuals. FUT 1 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_670del ACT , Y224del). FUT 2 sequencing showed one reported null allele (428G>A, W143X) and one homozygous deletion of FUT 2. Conclusion Although FUT 2 deletion has been reported, this is the first report of FUT 1 deletion. Finding two FUT 1 novel alleles in Iranian people is indicative of mutation diversity in this gene.