Molecular basis of Bombay phenotype in Mashhad, Iran: identification of a novel FUT1 deletion

Abstract

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.

The First Case of Para-Bombay Blood Type Encountered in a Korean Tertiary Hospital

“…The first report of this rare blood type was from India in 1952 5. Following this, there have been several reports regarding these rare blood groups; to the best of our knowledge, none have been reported from Korea 678910. Herein, we report the case of a Southeast Asian patient admitted at a tertiary hospital in Korea with a para-Bombay phenotype.…”

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

“…The ABO genotype was determined by amplifying DNA fragments encompassing the exon 6 and 7 of ABO gene by polymerase chain reaction (PCR). The sequences of all primers are described elsewhere [8]. The amplification reactions were performed in a final volume of 50 ll, using 2 9 PCR MasterMix (Yekta Tajhiz Azema; Tehran, Iran), 0.2 lM of each primer, and 50-100 ng of genomic DNA.…”

“…The characteristic of Bombay phenotype is the lack of ABH antigens both on RBC's surface and in saliva while para-Bombay phenotype is the result of nonfunctional FUT1 gene [4,5,13]. We previously reported two novel FUT1 alleles in Iranian people with Bombay phenotype [8]. Here we describe a mutational analysis of five people with Bombay phenotype in Tehran, Iran.…”

“…There are two kinds of alpha(1, 2) fucosyltransferase in human tissues: Fut1 enzyme, encoded by FUT1 gene, regulates the expression of ABH antigens on erythrocyte and endothelial cells. Fut2 enzyme is responsible for the expression of ABH antigens in gastrointestinal tract and secretions and is the product of FUT2 gene [6][7][8]. FUT1 and FUT2 genes are located just close to each other on chromosome 19q 13.33 with 70% DNA sequence homology.…”

“…FUT1 and FUT2 genes are located just close to each other on chromosome 19q 13.33 with 70% DNA sequence homology. The protein coding sequence of both genes has been confined to a single exon [7][8][9][10][11][12].…”