Original Article

A Novel Genotyping Method for Detection of Muscarinic Receptor M1 Gene rs2067477 Polymorphism and Its Genotype/Allele Frequencies in a Turkish Population


  • Fezile Özdemir
  • Yağmur Kır
  • Kenan Can Tok
  • Bora Baskak
  • Halit Sinan Suzen

Received Date: 20.08.2019 Accepted Date: 07.11.2019 Turk J Pharm Sci 0;0(0):0-0 [e-Pub]


Gene variation in the cholinergic muscarinic receptor 1 (CHRM1) has a potential to become one of candidate biomarker in the development of several disorders and also drug response. In this study, a novel PCR- RFLP assay was developed to determine the C to A single nucleotide polymorphism at position 267 in the CHRM1 gene.

Materials & Methods:

A new reverse primer and a mismatched forward primer were designed to obtain 125 bp PCR products. PCR products were then digested with the Hae III restriction enzyme to detect the rs2067477 polymorphism that comprises of C to A base change. The developed novel assay was tested in 51 Turkish schizophrenia patients.


Genotyping assay was successfully performed in patients with schizophrenia in order to confirm the accuracy and validity of this method. The frequency of CC, CA and AA genotypes were found as 72.5%, 25.5% and 2%, respectively. On the basis of this data, the allele frequency of C was 0.85 and the allele frequency for A was 0.15.


The suggested genotyping assay is practical for screening the CHRM1 C267A polymorphism in pharmacogenetic studies. The present polymorphism may use as a candidate biomarker to find out genetic susceptibility to related diseases’ and may contribute to the implementation of individualized drug therapy for M1 related diseases.

Keywords: CHRM1, C267A, Turkish, Schizophrenia, PCR-RFLP