Sequence analysis of the human fucosyltransferase 1 and 2 genes in Tibetan blood donors: identification of three novel alleles

Authors

  • Li Tian,

    1. Department of Blood Immunology, Institute of Blood Transfusion, Chinese Academy of Medical Sciences, Chengdu, Sichuan, China
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  • Ning Song,

    Corresponding author
    1. Department of Blood Immunology, Institute of Blood Transfusion, Chinese Academy of Medical Sciences, Chengdu, Sichuan, China
    • Address reprint requests to: Ning Song, Department of Blood Immunology, Institute of Blood Transfusion, Chinese Academy of Medical Sciences, 610052, Chengdu, Sichuan, China; e-mail: watercrowd@163.com.

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  • Zhi-Qiang Yao,

    1. Department of Blood Immunology, Institute of Blood Transfusion, Chinese Academy of Medical Sciences, Chengdu, Sichuan, China
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  • Xiao-Juan Li,

    1. Blood Center of Tibet Autonomous Region, Lhasa, Tibet Autonomous Region, China
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  • Rong Zhang

    1. Department of Blood Immunology, Institute of Blood Transfusion, Chinese Academy of Medical Sciences, Chengdu, Sichuan, China
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Abstract

Background

The α(1,2)-fucosyltransferase gene 1 (FUT1) and 2 (FUT2), respectively, regulate H antigen synthesis in red blood cells and body fluids. Genetic polymorphisms of FUT1 and FUT2 are ethnically and geographically specific.

Study Design and Methods

Healthy unrelated Tibetan blood donors (n = 200) from the Tibet Autonomous Region of China were recruited for this study. The entire FUT1 and FUT2 coding regions were amplified and sequenced. The haplotypes including novel single-nucleotide polymorphisms (SNPs) were determined by clone sequencing.

Results

In Tibetans, the major FUT1 allele was wild-type allele with a frequency of 97.75%. One novel FUT1 allele was defined by a novel synonymous mutation (846T>G). The two most common FUT2 alleles were functional allele Se357 with a frequency of 32.75% and nonfunctional allele se357,385 with a frequency of 55%. Two new FUT2 alleles were found at low frequency. They were characterized by two novel SNPs on the basis of se357,385: 617 T>G (V206G) and 841 G>A (G281R).

Conclusion

Three new alleles in FUT1 and FUT2 genes were identified in the study. The allelic polymorphisms of FUT1 and FUT2 in Tibetans show a population-specific manner.

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