期刊
FEBS LETTERS
卷 531, 期 2, 页码 127-131出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/S0014-5793(02)03424-5
关键词
P2X(7); promoter; polymorphism; ATP; cell lysis; 1513
A region 2 kb upstream of exon 1 of the P2X(7) gene was sequenced using DNA from nine healthy individuals who exhibited three different ATP response phenotypes (i.e. high, low and interferon gamma-inducible). Five single nucleotide polymorphisms were identified within the nine donor promoter sequences but none were associated with a specific ATP response phenotype. A P2X7 loss of function polymorphism (1513 in exon 13) was also screened for within donor DNA but no response associations were identified. ATP response phenotype was positively associated with P2X7 receptor expression, as assessed by flow cytometry, but not with any identified receptor or promoter gene polymorphisms. (C) 2002 Federation of European Biochemical Societies. Published by Elsevier Science B.V. All rights reserved.
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