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  • 标题:A polymorphic gene nested within an intron of the tau gene: Implications for Alzheimer's disease
  • 本地全文:下载
  • 作者:Chris Conrad ; Cintia Vianna ; Melissa Freeman
  • 期刊名称:Proceedings of the National Academy of Sciences
  • 印刷版ISSN:0027-8424
  • 电子版ISSN:1091-6490
  • 出版年度:2002
  • 卷号:99
  • 期号:11
  • 页码:7751-7756
  • DOI:10.1073/pnas.112194599
  • 语种:English
  • 出版社:The National Academy of Sciences of the United States of America
  • 摘要:A previously undescribed gene, Saitohin (STH), has been discovered in the intron between exons 9 and 10 of the human tau gene. STH is an intronless gene that encodes a 128-aa protein with no clear homologs. The tissue expression of STH is similar to tau, a gene that is implicated in many neurodegenerative disorders. In humans, a single nucleotide polymorphism that results in an amino acid change (Q7R) has been identified in STH and was used in a case control study. The Q7R polymorphism appears to be over-represented in the homozygous state in late onset Alzheimer's disease subjects.
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