Citation Information :
Garg M, Jain A, Goswami B, Puri M. Interesting Phenomenon of Primer-induced Mutagenesis Seen in Subjects with Respect to PPARγPro12Ala Polymorphism in Polycystic Ovary Syndrome. Indian J Med Biochem 2021; 25 (3):110-112.
Introduction: Polycystic ovary syndrome (PCOS), the commonest cause of endocrinal disorder in women of reproductive age, has a very wide spectrum of presentations. Insulin resistance is most frequently associated with PCOS. PPARγPro12Ala polymorphism; by reducing insulin resistance in PCOS subjects has emerged as one of the promising modalities of treatment of this syndrome.
Aim and objective: To explain the phenomenon of primer-induced mutagenesis with the help of PPARγPro12Ala polymorphism in subjects with PCOS.
Materials and methods: A hospital-based case-control study was carried out in 50 diagnosed cases of PCOS (15–45 years of age); according to revised Rotterdam Criteria along with 50 age and BMI-matched apparently healthy controls. PPARγPro12Ala polymorphism was detected through DNA extraction from whole blood followed by PCR and restriction fragment length polymorphism (RFLP) using restriction enzyme BstU1 Fast Digest. When the C → G substitution at nucleotide 34 is present (missense mutation CCA to GCA), the mutagenic downstream primer introduces a BstU1 restriction site (CG || CG). The expected products after digestion with BstU1 are 270 bp for normal homozygotes, 227 and 43 bp for Pro12Ala homozygotes, and 270, 227, and 43 bp for heterozygotes. Statistical analysis was performed using SPSS version 16 through an independent sample t-test for intergroup comparison of means and Pearson's correlation coefficient for correlation analysis. Categorical data analysis for polymorphism was carried out using the Chi-square test.
Results and conclusion: There was no significant difference in the genotypic distribution of C/G genotypes between cases and controls. Cases with CG genotype were associated with higher insulin sensitivity when compared with CC genotype though it was not statistically significant.
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