Genetic variation of FUT2 in Ovambos, Turks, and Mongolians

Transfusion
Mikiko SoejimaYoshiro Koda

Abstract

Many single-nucleotide polymorphisms (SNPs) have been identified in the coding region of the FUT2 locus, which encodes secretor type alpha(1,2)fucosyltransferase. These SNPs are highly population-specific. The 1121-bp polymerase chain reaction (PCR) product containing the whole FUT2 coding region in three human populations, Ovambos (n = 74), Turks (n = 70), and Mongolians (n = 118), was sequenced. The haplotypes consisting of novel SNPs were determined by sequencing cloned inserts, and the haplotypes consisting of already reported SNPs were inferred by free computer software (PHASE). The functional significance of novel SNPs by transient expression study was also examined. Twenty-four SNPs were found including seven novel SNPs (i.e., 4G > A, 244G > A, 442C > A, 489G > A, 569G > A, 665G > A, and 950C > T). A transient expression study suggested that the 244G > A, 569G > A, and 950C > T SNPs are enzyme-inactivating mutations. This study identified 24 SNPs in the FUT2 gene, of which 7 were novel. The frequencies of alleles and genotypes were determined in Ovambos, Turks, and Mongolians. The allelic composition of each population was similar to those of geographically closer populations.

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Dec 11, 2007·Transfusion·Mikiko SoejimaYoshiro Koda

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Citations

Jan 30, 2009·Transfusion·Mikiko SoejimaYoshiro Koda
Jun 19, 2015·Clinical Microbiology Reviews·Laura Cooling
Feb 6, 2021·Scientific Reports·Mikiko Soejima, Yoshiro Koda
Feb 20, 2020·Clinica Chimica Acta; International Journal of Clinical Chemistry·Mikiko Soejima, Yoshiro Koda

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