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

一种用于检测土耳其人群中毒蕈碱受体 M1 基因 rs2067477 多态性及其基因型/等位基因频率的新型基因分型方法

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作者:Fezile Özdemir, Yağmur Kır, Kenan Can Tok, Bora Baskak, Halit Sinan Süzen

Conclusion

This genotyping assay is practical for screening the CHRM1 C267A polymorphism in pharmacogenetic studies. The present polymorphism may be used as a candidate biomarker to determine genetic susceptibility to related diseases and may contribute to the implementation of individualized drug therapy for M1-related diseases.

Methods

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

Results

The 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 was 72.5%, 25.5%, and 2%, respectively. On the basis of these findings, the allele frequency of C was 0.85 and the allele frequency of A was 0.15.

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