Biochemical Genetics

, Volume 50, Issue 11–12, pp 967–977 | Cite as

Comprehensive Analysis of UGT1A1 Genetic Polymorphisms in Chinese Tibetan and Han Populations

  • Xiaoqing Zhang
  • Xiaohong Meng
  • Yuewen Wang
  • Wei Yan
  • Jin Yang


The study of polymorphism of the UGT1A1 gene has not been reported in the Chinese Tibetan population, and there are no comparisons of genetic polymorphism in the gene between Chinese Han and Tibetan populations. In this study, we directly sequenced the functional regions of the UGT1A1 gene in 200 unrelated healthy Chinese volunteers, detecting 20 variations (including five novel ones). The distributions of allele and genotype frequencies differ between the two groups. UGT1A1*6 is the major reduced functional variant in the populations, and the *27 allele was detected only in the Han group. Differences in the frequencies of the UGT1A1*6/*63 genotype between the Tibetan and Han populations were statistically significant (P = 0.009). Our genetic data might provide fundamental information for the advance of personalized medicine and will facilitate genotype-phenotype studies in larger populations.


Chinese Genetic polymorphisms Haplotype UGT1A1 gene 


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Copyright information

© Springer Science+Business Media, LLC 2012

Authors and Affiliations

  • Xiaoqing Zhang
    • 1
  • Xiaohong Meng
    • 2
  • Yuewen Wang
    • 1
  • Wei Yan
    • 1
  • Jin Yang
    • 1
  1. 1.National Engineering Research Center for Miniaturized Detection System, College of Life Sciences, Northwest UniversityXi’anChina
  2. 2.504 Section of Xi’an High-tech InstituteXi’anChina

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