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Literature DB >> 30988570

Mutational Analysis of Bombay Phenotype in Iranian People: Identification of a Novel FUT1 Allele.

Farnaz Roshan Mehr¹, Mahdie Manafi¹, Zohreh Sharifi¹, Majid Shahabi¹.

Abstract

Bombay phenotype is characterized by lack of ABH antigens on RBCs and in body secretions as a result of mutations in fucosyltransferase 1 (FUT1) and fucosyltransferase 2 (FUT2) genes. The aim of this study was a mutational analysis in Iranians with this phenotype. Serological analyses including ABH and adsorption-elution tests were performed in five unrelated Bombay individuals. ABO genotyping was determined by direct sequencing. The coding regions of FUT1 and FUT2 genes were amplified and sequenced directly or after cloning into suitable vector. A novel missense FUT1 allele was detected (G1051T; G351C). Also four reported FUT1 alleles were revealed. Molecular analysis of FUT2 gene confirmed nonsecretor status in all individuals. This and our previous findings suggest the diversity and population specificity of FUT1 alleles.

Entities: Gene Mutation Species

Keywords: ABH antigens; Bombay phenotype; FUT1; FUT2

Year: 2018 PMID： 30988570 PMCID： PMC6439033 DOI： 10.1007/s12288-018-1027-9

Source DB: PubMed Journal: Indian J Hematol Blood Transfus ISSN： 0971-4502 Impact factor: 0.900

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References

17 in total

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Mutational Analysis of Bombay Phenotype in Iranian People: Identification of a Novel FUT1 Allele.

1. Molecular cloning, sequence, and expression of a human GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase cDNA that can form the H blood group antigen.

2. Identification of a novel FUT1 allele derived from the alpha-(1,2)-fucosyltransferase gene through a nucleotide substitution 682A>G.

3. The summary of FUT1 and FUT2 genotyping analysis in Chinese para-Bombay individuals including additional nine probands from Guangzhou in China.

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10. Molecular genetic analysis of para-Bombay phenotypes in Chinese: a novel non-functional FUT1 allele is identified.