title: A 5' intronic splice site polymorphism leads to a null allele of the P2X7 gene in 1-2% of the Caucasian population.
abstract: 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.
authors.affiliation: Department of Medicine, University of Sydney at Nepean Hospital, Penrith, NSW, Australia.
authors.forename: Kristen K
authors.initials: KK
authors.lastname: Skarratt
authors.forename: Stephen J
authors.initials: SJ
authors.lastname: Fuller
authors.forename: Ronald
authors.initials: R
authors.lastname: Sluyter
authors.forename: Lan-Phuong
authors.initials: LP
authors.lastname: Dao-Ung
authors.forename: Ben J
authors.initials: BJ
authors.lastname: Gu
authors.forename: James S
authors.initials: JS
authors.lastname: Wiley
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D006579:Heterozygote; D006801:Humans; D007194:India / Q000208:ethnology; D007438:Introns; D008297:Male; D008875:Middle Aged; D009154:Mutation; D017354:Point Mutation; D011110:Polymorphism, Genetic; D022821:RNA Splice Sites; D018048:Receptors, Purinergic P2 / Q000235:genetics*; D058486:Receptors, Purinergic P2X7; D020133:Reverse Transcriptase Polymerase Chain Reaction; D044465:White People
chemical_list: C546468:P2RX7 protein, human; D022821:RNA Splice Sites; D018048:Receptors, Purinergic P2; D058486:Receptors, Purinergic P2X7