Genetic variation of FUT2 in Ovambos, Turks, and Mongolians.
BACKGROUND
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.


METHODS
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.


RESULTS
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.


CONCLUSIONS
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.
Soejima
Mikiko
M
The Department of Forensic Medicine and Human Genetics, Kurume University School of Medicine, Kurume, Fukuoka, Japan.
Nakajima
Tamiko
T
Fujihara
Junko
J
Takeshita
Haruo
H
Koda
Yoshiro
Y
D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D019556:COS Cells; D002522:Chlorocebus aethiops; D005647:Fucosyltransferases / Q000235:genetics*; D005787:Gene Frequency; D014644:Genetic Variation; D005838:Genotype; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D008986:Mongolia; D009276:Namibia; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D017386:Sequence Homology, Amino Acid; D012689:Sequence Homology, Nucleic Acid; D014421:Turkey; D000097631:Galactoside 2-alpha-L-fucosyltransferase
D005647:Fucosyltransferases; D000097631:Galactoside 2-alpha-L-fucosyltransferase