Human adenosine 2B receptor: SNP discovery and evaluation of expression in patients with cystic fibrosis
| Autor: | Rainer Büscher, Felix Ratjen, André Hoerning, Chih-Min Tang, Hartmut Grasemann, Paul A. Insel, Daniel T. O'Connor |
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| Předmět: |
Adult
Male Cystic Fibrosis Medizin Single-nucleotide polymorphism Biology Receptor Adenosine A2B Polymorphism Single Nucleotide White People Exon Polymorphism (computer science) Genetics Humans SNP Coding region General Pharmacology Toxicology and Pharmaceutics Molecular Biology Allele frequency Genetics (clinical) Middle Aged Black or African American Molecular Medicine Female Restriction fragment length polymorphism Pharmacogenetics |
| Zdroj: | Scopus-Elsevier |
| Popis: | Objectives and methods We analyzed the adenosine 2B (A 2B ) receptor gene, which consists of two exons, for single nucleotide polymorphisms (SNPs) and tested the hypothesis that coding sequence polymorphisms in the gene contribute to disease state in patients with cystic fibrosis (CF). Using PCR and restriction fragment length polymorphism (RFLP) analysis, we assessed 53 American subjects of mixed ethnicity, 64 European Caucasian control subjects and 148 Caucasian patients with CF for A 2B SNPs. Results We identified one SNP in the 5' untranslated region (UTR) and seven SNPs in the open reading frame. One SNP was identified in the coding region of a German patient with CF but in none of the American subjects. No other SNPs were found in CF patients. A nonsynonymous SNP was identified in exon 2 of the German controls with an allelic frequency of 11%. The US subjects were of mixed ethnicity and most frequently (10.4%) had a SNP in the 5'UTR; 7 coding SNPs occurred in |
| Databáze: | OpenAIRE |
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