title: Genetic variation of FUT2 in a Vietnamese population: identification of two novel Se enzyme-inactivating mutations.
abstract: BACKGROUND
  The human FUT2 gene encodes a secretor-type α(1,2)fucosyltransferase, and many population-specific polymorphisms have been reported in the coding region.
  
  
  METHODS
  Direct sequencing, real-time polymerase chain reaction, and high-resolution melt (HRM) analysis were done to detect single-nucleotide polymorphism (SNPs) and copy number variations (CNVs) in a Vietnamese population. The impacts of two novel mutations on the encoded enzyme were examined by a transient expression study.
  
  
  RESULTS
  The major nonfunctional allele in the 294 Vietnamese was se(357,385), whereas no CNV was detected. Two novel SNPs, 818C>A (Thr273Asn) and 853G>A (Ala285Thr), distributed at low frequency, were shown to remarkably affect the enzyme activity.
  
  
  CONCLUSIONS
  The allelic polymorphism of FUT2 in Vietnamese is similar to that of other East and Southeast Asian populations. This result may reflect the history and gene flow of this population. In addition, HRM analysis seems to be a simple and effective method for screening rare SNPs of FUT2 in a large number of samples. [Correction statement added after online publication 21-Dec-2011: Thr273Ala has been updated to Thr273Asn throughout.]
authors.affiliation: Department of Forensic Medicine and Human Genetics, Kurume University School of Medicine, Kurume, Japan.
authors.forename: Mikiko
authors.initials: M
authors.lastname: Soejima
authors.forename: Ryo
authors.initials: R
authors.lastname: Fujimoto
authors.forename: Tetsuro
authors.initials: T
authors.lastname: Agusa
authors.forename: Hisato
authors.initials: H
authors.lastname: Iwata
authors.forename: Junko
authors.initials: J
authors.lastname: Fujihara
authors.forename: Haruo
authors.initials: H
authors.lastname: Takeshita
authors.forename: Tu Binh
authors.initials: TB
authors.lastname: Minh
authors.forename: Pham Thi Kim
authors.initials: PT
authors.lastname: Trang
authors.forename: Pham Hung
authors.initials: PH
authors.lastname: Viet
authors.forename: Tamiko
authors.initials: T
authors.lastname: Nakajima
authors.forename: Joji
authors.initials: J
authors.lastname: Yoshimoto
authors.forename: Shinsuke
authors.initials: S
authors.lastname: Tanabe
authors.forename: Yoshiro
authors.initials: Y
authors.lastname: Koda
mesh_terms: D044466:Asian People / Q000235:genetics*; D004252:DNA Mutational Analysis; D005647:Fucosyltransferases / Q000235:genetics*; D014644:Genetic Variation; D005828:Genetics, Population; D006801:Humans; D020125:Mutation, Missense; D014744:Vietnam; D000097631:Galactoside 2-alpha-L-fucosyltransferase
chemical_list: D005647:Fucosyltransferases; D000097631:Galactoside 2-alpha-L-fucosyltransferase