Identification of six new alleles at the FUT1 and FUT2 loci in ethnically diverse individuals with Bombay and Para‐Bombay phenotypes

Abstract

These results add to the growing database of apparently sporadic and random mutations in the FUT1 gene and confirm previous reports regarding the lack of ethnic bias. In contrast, our data reinforce the apparent maintenance of the common nonsecretor FUT2 alleles in the population.

Many genetically defined ABO subgroups exhibit characteristic flow cytometric patterns

“…The four para‐Bombay samples included in this study had functional A or B and FUT2 genes but homozygosity or compound heterozygosity for crippling mutations at the FUT1 locus 41‐43 . In the histograms and dot plots of three of these samples (Figs.…”

A novel FUT1 allele was identified in a Chinese individual with para‐Bombay phenotype

“…The para-Bombay phenotype has been found in a diversity of ethnic groups and nationalities, including Indians, Europeans, Japanese, Chinese, South-East Asians, Middle Easterners and Native Americans (Yu et al, 1997;Kaneko et al, 1997;Wagner & Flegel, 1997;Wang et al, 1997;Fernandez-Mateos et al, 1998;Sun et al, 2000;Yip et al, 2002;Blumenfeld & Patnaik, 2004;Chen et al, 2004;Gilboa-Garber et al, 2006;Storry et al, 2006;Matzhold et al, 2009). It is still not clear what determines the levels of H antigen expression on erythrocytes of para-Bombay individuals.…”

ABO, H, and Lewis Systems

“…alleles encoding premature stop codons (421A > G, Trp-140Stop and 826C > T, Gln276Stop) [411] . alleles encoding premature stop codons (421A > G, Trp-140Stop and 826C > T, Gln276Stop) [411] .…”

“…A rich source of two types of H -defi ciency phenotype exists in R é union Island in the Indian Ocean: typical O h in the Tamil Indian population and partial red cell H -defi ciency, non -secretor in the population of European origin [428] . O h has also been found in other ethnic groups, including people of European origin [407,411,419,420] , where the ' atypical Oh ' phenotype may predominate, African Americans [429] , and in Japanese, where homozygosity for Se w385 suggests that they are actually weak secretors [406] .…”

“…Most H -defi cient secretors have been found in Eastern Asia -Chinese [408,412,441,446] and Japanese [406,409,440] -but also very rarely in other ethnic groups including people of European origin [80,411,443,447] , from the Middle East [80,411] , and a Native American [448] . Some estimated frequencies: one in 5000 Thais [442] , one in 8000 Taiwanese [449] , and one in 15 620 Hong Kong Chinese [441] .…”