Please use this identifier to cite or link to this item: http://repository.vnu.edu.vn/handle/VNU_123/27076
Title: Genetic variation of FUT2 in a Vietnamese population: identification of two novel Se enzyme-inactivating mutations
Authors: Soejima, Mikiko
Tu Binh Minh
Pham Thi Kim Trang
Pham Hung Viet
Fujimoto, Ryo
Keywords: SECRETOR LOCUS FUT2;BLOOD-GROUP ANTIGENS;ALPHA(1,2)-FUCOSYL-TRANSFERASE GENE;NONSECRETOR ALLELE;MOLECULAR ANALYSIS;FUSION GENE;POLYMORPHISM;SUSCEPTIBILITY;INDIVIDUALS;DEFICIENCY
Issue Date: 2012
Publisher: WILEY-BLACKWELL, 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
Citation: ISIKNOWLEDGE
Abstract: BACKGROUND: The human FUT2 gene encodes a secretor-type a(1,2)fucosyltransferase, and many population-specific polymorphisms have been reported in the coding region. STUDY DESIGN AND 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 se357,385, 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. CONCLUSION: 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.]
Description: TNS06872 ; TRANSFUSION Volume: 52 Issue: 6 Pages: 1268-1275 Published: JUN 2012
URI: http://repository.vnu.edu.vn/handle/VNU_123/27076
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