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A 5′ intronic splice site polymorphism leads to a null allele of the P2X 7 gene in 1–2% of the Caucasian population
Author(s) -
Skarratt Kristen K.,
Fuller Stephen J.,
Sluyter Ronald,
Dao-Ung Lan-Phuong,
Gu Ben J.,
Wiley James S.
Publication year - 2005
Publication title -
febs letters
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.593
H-Index - 257
eISSN - 1873-3468
pISSN - 0014-5793
DOI - 10.1016/j.febslet.2005.03.091
Subject(s) - genetics , allele , null allele , intron , biology , gene , splice site mutation , allele frequency , splice , mutation , population , microbiology and biotechnology , exon , alternative splicing , medicine , environmental health
The P2X 7 gene is important for the innate immune response but known polymorphisms do not explain all subjects with loss of P2X 7 function. A splice site mutation (g → t) was found at position +1 of the first intron of the P2X 7 gene in 7 of 336 Caucasians and 1 of 39 subjects of Indian ethnicity. All eight subjects were heterozygous for the uncommon 1513A → C polymorphism of the P2X 7 gene. RT‐PCR and sequencing showed the splice site mutation was on the 1513C allele in the Caucasians and on the 1513A allele in the Indian subject. The splice site mutation is an inherited polymorphism and gives rise to a P2X 7 null allele in 1–2% of the Caucasian population.