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Haplotype analysis encompassing HTT gene in Chinese patients with Huntington's disease.

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  • Additional Information
    • Source:
      Publisher: Wiley Country of Publication: England NLM ID: 9506311 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-1331 (Electronic) Linking ISSN: 13515101 NLM ISO Abbreviation: Eur. J. Neurol. Subsets: In Process; MEDLINE
    • Publication Information:
      Publication: <2014- > : Oxford : Wiley
      Original Publication: Oxford ; New York : Rapid Communications, [1994-
    • Abstract:
      Background and Purpose: Huntington's disease (HD) is a dominantly inherited neurodegenerative disorder with varied prevalence in different populations, which may be associated with specific haplotypes. This study aimed to explore the haplotypes encompassing the HTT gene in the Chinese population.
      Methods: A total of 406 individuals with HD and 59 normal relatives from 253 families with HD were enrolled. A total of 29 tag single nucleotide polymorphisms (tSNPs) were selected and genotyped for the haplotype analysis.
      Results: In stage one, we used 18 tSNPs to replicate the distribution of three major haplogroups (A, B, C). We found that risk-associated haplogroup variants A1 and A2, enriched on Caucasian HD chromosomes, were totally absent from both Chinese HD and control chromosomes, and the distributions of haplogroups between HD and control chromosomes were similar. Therefore, in stage two, we used 29 tSNPs (including the18 tSNPs) to define new haplogroups (I, II, III) and found that haplogroup I accounted for 61.4% on HD chromosomes and 34.4% on control chromosomes, indicating that haplogroup I was enriched on Chinese HD chromosomes.
      Conclusions: This is the first haplotype analysis encompassing HTT in the Chinese population. The results contribute to explaining the low prevalence of HD in China and provide a better understanding of genetic diversity in the HTT region.
      (© 2019 European Academy of Neurology.)
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    • Grant Information:
      188020-193810101/089 International The research foundation for distinguished scholar of Zhejiang University; 81125009 International National Natural Science Foundation of China
    • Contributed Indexing:
      Keywords: Chinese population*; Huntington's disease*; haplotype analysis*
    • Publication Date:
      Date Created: 20190825 Latest Revision: 20200730
    • Publication Date:
      20201020
    • Accession Number:
      10.1111/ene.14072
    • Accession Number:
      31444920
  • Citations
    • ABNT:
      LI, X.-Y. et al. Haplotype analysis encompassing HTT gene in Chinese patients with Huntington’s disease. European journal of neurology, [s. l.], v. 27, n. 2, p. 273–279, 2020. DOI 10.1111/ene.14072. Disponível em: http://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdc&AN=31444920. Acesso em: 29 out. 2020.
    • AMA:
      Li X-Y, Li H-L, Dong Y, et al. Haplotype analysis encompassing HTT gene in Chinese patients with Huntington’s disease. European journal of neurology. 2020;27(2):273-279. doi:10.1111/ene.14072
    • APA:
      Li, X.-Y., Li, H.-L., Dong, Y., Gao, B., Cheng, H.-R., Ni, W., Gan, S.-R., Liu, Z.-J., Burgunder, J.-M., & Wu, Z.-Y. (2020). Haplotype analysis encompassing HTT gene in Chinese patients with Huntington’s disease. European Journal of Neurology, 27(2), 273–279. https://doi.org/10.1111/ene.14072
    • Chicago/Turabian: Author-Date:
      Li, X-Y, H-L Li, Y Dong, B Gao, H-R Cheng, W Ni, S-R Gan, Z-J Liu, J-M Burgunder, and Z-Y Wu. 2020. “Haplotype Analysis Encompassing HTT Gene in Chinese Patients with Huntington’s Disease.” European Journal of Neurology 27 (2): 273–79. doi:10.1111/ene.14072.
    • Harvard:
      Li, X.-Y. et al. (2020) ‘Haplotype analysis encompassing HTT gene in Chinese patients with Huntington’s disease’, European journal of neurology, 27(2), pp. 273–279. doi: 10.1111/ene.14072.
    • Harvard: Australian:
      Li, X-Y, Li, H-L, Dong, Y, Gao, B, Cheng, H-R, Ni, W, Gan, S-R, Liu, Z-J, Burgunder, J-M & Wu, Z-Y 2020, ‘Haplotype analysis encompassing HTT gene in Chinese patients with Huntington’s disease’, European journal of neurology, vol. 27, no. 2, pp. 273–279, viewed 29 October 2020, .
    • MLA:
      Li, X. Y., et al. “Haplotype Analysis Encompassing HTT Gene in Chinese Patients with Huntington’s Disease.” European Journal of Neurology, vol. 27, no. 2, Feb. 2020, pp. 273–279. EBSCOhost, doi:10.1111/ene.14072.
    • Chicago/Turabian: Humanities:
      Li, X-Y, H-L Li, Y Dong, B Gao, H-R Cheng, W Ni, S-R Gan, Z-J Liu, J-M Burgunder, and Z-Y Wu. “Haplotype Analysis Encompassing HTT Gene in Chinese Patients with Huntington’s Disease.” European Journal of Neurology 27, no. 2 (February 2020): 273–79. doi:10.1111/ene.14072.
    • Vancouver/ICMJE:
      Li X-Y, Li H-L, Dong Y, Gao B, Cheng H-R, Ni W, et al. Haplotype analysis encompassing HTT gene in Chinese patients with Huntington’s disease. European journal of neurology [Internet]. 2020 Feb [cited 2020 Oct 29];27(2):273–9. Available from: http://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdc&AN=31444920