Population frequency, mutation linkage and analytical methodology for the Arg16Gly, Gln27Glu and Thr164Ile polymorphisms in the beta(2)-adrenergic receptor among Turks

Aims Inherited polymorphisms of codons 16, 27, and 164 of the beta(2)-adren ergic receptor (B2AR) gene may result in significantly changed functions of this receptor. The aim of the present study was to investigate the frequen cies of the main mutations of the B2AR gene in Turks. Methods A group of 104 unrelated Turkish subjects were analysed for the Arg 16Gly, Gln27Glu, and Thr164Leu polymorphisms of B2AR by a newly designed po lymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. A 242-bp amplicon including the Arg16Gly and Gln27Glu polymorphisms was generated including an arbitrary restriction site, allowing the cleava ge with Eco13OI or Fnu4HI for analysis of the two polymorphic sites, respec tively. For the amino acid polymorphism at codon 164 a 280-bp fragment was generated and digested by MnlI. Results The allelic frequencies of mutated Gly16, Glu27, and Ile164 alleles were found as 59.6%, 31.7%, and 0.5%, respectively. Although, the frequenc ies of the polymorphisms at codon 16 and 164 were found similar as in vario us Caucasian populations, the frequency of the Glu27 variant was found sign ificantly lower than these populations. Conclusions Obviously there are interethnic differences in functionally rel evant B2AR variants which may have implications for drug treatment and dise ase susceptibility.