A 5′intronic splice site polymorphism leads to a nulll allele of the P2X7 gene in 1-2% of the Caucasian population

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 1of 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. (c) 2005 Federation of European Biochemical Societies. Published by Elsevier B.V. All rights reserved.