Abstract
Background and purpose
Bombay and Para-Bombay phenotypes are characterized by FUT1 gene mutation and lack
of H antigen expression in red blood cells. ABH antigens are not present in the body
secretions of Bombay individuals, while they are expressed in the secretions of para-Bombay.
The aim of this study was to investigate the molecular basis of FUT1 and FUT2 genes
in Iranians with the Bombay or Para-Bombay phenotype.
Materials and Methods
ABO phenotype analysis and routine serological tests were performed on 11 people with
Bombay and Para-Bombay phenotypes. The coding regions of FUT1 and FUT2 genes were
amplified by PCR followed by sequencing. The ABO genotypes were also determined by
sequencing exons 6 and 7 of the ABO gene. Results: Serological investigations confirmed
the Bombay phenotype in 8 samples and the Para-Bombay phenotype in 3 samples. Family
members with the Bombay phenotype had the classic c 0.725 T > G mutation in the FUT1
gene, accompanied by deletion of the FUT2 gene. Other samples had c.653 A>G, c 0.661 C>T,
c 0.652 C>G, and c.722 A>C mutations in the FUT1 while FUT2 was silenced by c 0.461 G>A.
Conclusion: In this research, we identified two novel mutations in the FUT1 gene in
individuals with the Bombay phenotype. This and previous works confirm the variety
of FUT1 mutations.
Keywords
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Article info
Publication history
Published online: January 05, 2023
Accepted:
January 5,
2023
Received in revised form:
December 27,
2022
Received:
August 17,
2022
Publication stage
In Press Journal Pre-ProofIdentification
Copyright
© 2023 Elsevier Ltd. All rights reserved.
