Yıl: 2020 Cilt: 17 Sayı: 6 Sayfa Aralığı: 653 - 658 Metin Dili: İngilizce DOI: 10.4274/tjps.galenos.2019.46793 İndeks Tarihi: 03-05-2021

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

Öz:
Objectives: Gene variation in the cholinergic muscarinic receptor 1 (CHRM1) has potential to become a candidate biomarker in the development ofseveral disorders as well as drug response. In this study, a novel polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP)assay was developed to determine the C to A single nucleotide polymorphism at position 267 in the CHRM1 gene.Materials and Methods: A new reverse primer and a mismatched forward primer were designed to obtain 125 bp PCR products. The PCR productswere then digested with the Hae III restriction enzyme to detect the rs2067477 polymorphism that comprises a C to A base change. The novel assaydeveloped 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 thismethod. The frequency of CC, CA, and AA genotypes was 72.5%, 25.5%, and 2%, respectively. On the basis of these findings, the allele frequencyof C was 0.85 and the allele frequency of A was 0.15.Conclusion: This genotyping assay is practical for screening the CHRM1 C267A polymorphism in pharmacogenetic studies. The present polymorphismmay be used as a candidate biomarker to determine genetic susceptibility to related diseases and may contribute to the implementation ofindividualized drug therapy for M1-related diseases.
Anahtar Kelime:

Muskarinik Reseptör M1 Geni rs2067477 Polimorfizmini Belirlemek için Yeni Bir Genotipleme Yöntemi ve Türk Popülasyonunda Genotip/Alel Sıklıkları

Öz:
Amaç: Kolinerjik muskarinik reseptör 1’deki (CHRM1) gen varyasyonu, çeşitli bozuklukların gelişimi için ve ayrıca ilaç yanıtında aday biyogöstergelerden biri olma potansiyeline sahiptir. Bu çalışmada, CHRM1 geninde 267. pozisyondaki C’den A’ya olan tek nükleotid polimorfizmini belirlemek için yeni bir polimeraz zincir reaksiyonu-kesim parçası uzunluk polimorfizmi (PCR-RFLP) analizi geliştirilmiştir. Gereç ve Yöntemler: Yüz yirmi beş bç PCR ürünlerini elde etmek için yeni bir geri primer ve uyumsuz bir ileri primer tasarlanmıştır. PCR ürünleri daha sonra C’den A’ya olan baz değişikliğini içeren rs2067477 polimorfizmini tespit etmek için Hae III restriksiyon enzimi ile kesilmiştir. Geliştirilen yeni analiz, 51 Türk şizofreni hastasında test edilmiştir. Bulgular: Genotipleme analizi, yöntemin doğruluğunu ve geçerliliğini onaylamak için şizofreni hastalarında başarıyla uygulanmıştır. CC, CA ve AA genotiplerinin sıklığı sırasıyla %72,5; %25,5 ve %2 olarak bulunmuştur. Bu verilere dayanarak, C alel frekansı 0,85 ve A alel için frekans 0,15 olarak bulunmuştur.
Anahtar Kelime:

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APA ÖZDEMİR F, KIR Y, Tok K, BASKAK B, SÜZEN H (2020). A Novel Genotyping Method for Detection of the Muscarinic Receptor M1 Gene rs2067477 Polymorphism and Its Genotype/Allele Frequencies in a Turkish Population. , 653 - 658. 10.4274/tjps.galenos.2019.46793
Chicago ÖZDEMİR Fezile,KIR Yağmur,Tok Kenan Can,BASKAK Bora,SÜZEN Halit Sinan A Novel Genotyping Method for Detection of the Muscarinic Receptor M1 Gene rs2067477 Polymorphism and Its Genotype/Allele Frequencies in a Turkish Population. (2020): 653 - 658. 10.4274/tjps.galenos.2019.46793
MLA ÖZDEMİR Fezile,KIR Yağmur,Tok Kenan Can,BASKAK Bora,SÜZEN Halit Sinan A Novel Genotyping Method for Detection of the Muscarinic Receptor M1 Gene rs2067477 Polymorphism and Its Genotype/Allele Frequencies in a Turkish Population. , 2020, ss.653 - 658. 10.4274/tjps.galenos.2019.46793
AMA ÖZDEMİR F,KIR Y,Tok K,BASKAK B,SÜZEN H A Novel Genotyping Method for Detection of the Muscarinic Receptor M1 Gene rs2067477 Polymorphism and Its Genotype/Allele Frequencies in a Turkish Population. . 2020; 653 - 658. 10.4274/tjps.galenos.2019.46793
Vancouver ÖZDEMİR F,KIR Y,Tok K,BASKAK B,SÜZEN H A Novel Genotyping Method for Detection of the Muscarinic Receptor M1 Gene rs2067477 Polymorphism and Its Genotype/Allele Frequencies in a Turkish Population. . 2020; 653 - 658. 10.4274/tjps.galenos.2019.46793
IEEE ÖZDEMİR F,KIR Y,Tok K,BASKAK B,SÜZEN H "A Novel Genotyping Method for Detection of the Muscarinic Receptor M1 Gene rs2067477 Polymorphism and Its Genotype/Allele Frequencies in a Turkish Population." , ss.653 - 658, 2020. 10.4274/tjps.galenos.2019.46793
ISNAD ÖZDEMİR, Fezile vd. "A Novel Genotyping Method for Detection of the Muscarinic Receptor M1 Gene rs2067477 Polymorphism and Its Genotype/Allele Frequencies in a Turkish Population". (2020), 653-658. https://doi.org/10.4274/tjps.galenos.2019.46793
APA ÖZDEMİR F, KIR Y, Tok K, BASKAK B, SÜZEN H (2020). A Novel Genotyping Method for Detection of the Muscarinic Receptor M1 Gene rs2067477 Polymorphism and Its Genotype/Allele Frequencies in a Turkish Population. Turkish Journal of Pharmaceutical Sciences, 17(6), 653 - 658. 10.4274/tjps.galenos.2019.46793
Chicago ÖZDEMİR Fezile,KIR Yağmur,Tok Kenan Can,BASKAK Bora,SÜZEN Halit Sinan A Novel Genotyping Method for Detection of the Muscarinic Receptor M1 Gene rs2067477 Polymorphism and Its Genotype/Allele Frequencies in a Turkish Population. Turkish Journal of Pharmaceutical Sciences 17, no.6 (2020): 653 - 658. 10.4274/tjps.galenos.2019.46793
MLA ÖZDEMİR Fezile,KIR Yağmur,Tok Kenan Can,BASKAK Bora,SÜZEN Halit Sinan A Novel Genotyping Method for Detection of the Muscarinic Receptor M1 Gene rs2067477 Polymorphism and Its Genotype/Allele Frequencies in a Turkish Population. Turkish Journal of Pharmaceutical Sciences, vol.17, no.6, 2020, ss.653 - 658. 10.4274/tjps.galenos.2019.46793
AMA ÖZDEMİR F,KIR Y,Tok K,BASKAK B,SÜZEN H A Novel Genotyping Method for Detection of the Muscarinic Receptor M1 Gene rs2067477 Polymorphism and Its Genotype/Allele Frequencies in a Turkish Population. Turkish Journal of Pharmaceutical Sciences. 2020; 17(6): 653 - 658. 10.4274/tjps.galenos.2019.46793
Vancouver ÖZDEMİR F,KIR Y,Tok K,BASKAK B,SÜZEN H A Novel Genotyping Method for Detection of the Muscarinic Receptor M1 Gene rs2067477 Polymorphism and Its Genotype/Allele Frequencies in a Turkish Population. Turkish Journal of Pharmaceutical Sciences. 2020; 17(6): 653 - 658. 10.4274/tjps.galenos.2019.46793
IEEE ÖZDEMİR F,KIR Y,Tok K,BASKAK B,SÜZEN H "A Novel Genotyping Method for Detection of the Muscarinic Receptor M1 Gene rs2067477 Polymorphism and Its Genotype/Allele Frequencies in a Turkish Population." Turkish Journal of Pharmaceutical Sciences, 17, ss.653 - 658, 2020. 10.4274/tjps.galenos.2019.46793
ISNAD ÖZDEMİR, Fezile vd. "A Novel Genotyping Method for Detection of the Muscarinic Receptor M1 Gene rs2067477 Polymorphism and Its Genotype/Allele Frequencies in a Turkish Population". Turkish Journal of Pharmaceutical Sciences 17/6 (2020), 653-658. https://doi.org/10.4274/tjps.galenos.2019.46793