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A region 2 kb upstream of exon 1 of the P2X7 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 P2X(7) receptor expression, as assessed by flow cytometry, but not with any identified receptor or promoter gene polymorphisms.

Type

Journal article

Journal

FEBS Lett

Publication Date

06/11/2002

Volume

531

Pages

127 - 131

Keywords

Adenosine Triphosphate, Base Sequence, Cells, Cultured, Humans, Interferon-gamma, Macrophages, Molecular Sequence Data, Phenotype, Polymorphism, Single Nucleotide, Promoter Regions, Genetic, RNA, Messenger, Receptors, Purinergic P2, Receptors, Purinergic P2X7, Sequence Alignment, Transcription, Genetic