Identification of two novel FUT1 mutations in people with Bombay phenotype from Iran
Identification of two novel FUT1 mutations in people with Bombay phenotype from Iran
Faeze Shahriyari,1Majid shahabi,2,*Arezoo oodi,3Fatemeh Nasiri Kenari,4
1. High Institute for Research and Education in Transfusion Medicine 2. High Institute for Research and Education in Transfusion Medicine 3. High Institute for Research and Education in Transfusion Medicine 4. High Institute for Research and Education in Transfusion Medicine
Introduction: Background and purpose: Bombay and Para-Bombay phenotypes are characterized by FUT1gene mutation and lack or little expression of H antigen expression on red blood cells. ABH antigens are not present in the body secretions Bombay individuals, while para-Bombay individuals can be secretors or nonsecretors. 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.
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 of 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 T725G mutation in the FUT1 gene, accompanied by deletion of the FUT2 gene. Other samples had A653G, C661T, C652G and A722C mutations in the FUT1 while FUT2 was silenced by G461A or C390T variants.
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.
Bombay phenotype, Para-Bombay phenotype, H antigen, FUT1, FUT2
Keywords: Bombay phenotype, Para-Bombay phenotype, H antigen, FUT1, FUT2