Background: Genetic instability is alterations in the cell at varying levels of chromosomal organization, ranging from single-point mutations to complete-chromosome changes. Hyperandrogenism, pseudocyesis, and genetic susceptibility are central factors that lead to polycystic ovary syndrome (PCOS), a polygenic condition and one of the foremost causes of infertility in women. Genetic changes in PCOS have been indicated to influence the risk of cancer. Biomarker identification and analysis could offer a potential diagnostic approach for PCOS.

Settings and Design: In this study, it was performed in a South Indian population with the comparison of genetically unstable cortical PCOS patients with healthy controls by invasive and non-invasive biomarkers.

Materials and Methods: PCOS patients were selected according to the Rotterdam criteria. Buccal smears were harvested for cytogenetic analysis. Buccal cytome assays were utilized to estimate MNi frequency, whereas the Cytokinesis-Block Micronucleus Cytome (CBMN cyt) assay was utilized to measure NPBs, NBUDs, and multinucleated cell frequency (tri- and tetranucleated). Moreover, tests for chromosomal aberrations were conducted to detect chromosomal breaks and deletions.

Statistical Analysis Used: Statistical analysis was performed using the proper statistical tests to compare the frequencies of biomarkers in PCOS patients and healthy controls. Significance was examined to assess the degree of cytogenetic instability.

Results: A high frequency of nucleoplasmic bridges, nuclear buds, and micronuclei-bearing binucleated cells was found in PCOS patients as compared with the controls. Chromosomal aberration analysis also revealed higher frequencies of breaks and deletions in the PCOS group, indicating genomic instability.

Conclusions: Cytogenetic analyses reveal that patients with PCOS in the South Indian population have considerable DNA damage and chromosomal instability relative to healthy controls. These findings suggest the possibility of using buccal cytome and chromosomal aberration assays as non-invasive and invasive biomarkers for determining genomic instability in PCOS.

Keywords: Cytogenetic study, PCOS, Genomic instability, Biomarkers, Chromosomal aberrations.

Nishu Sekar who has nearly 7 years of teaching and research experience is currently working as the assistant professor in the department of biotechnology, School of Life Sciences (Ooty Campus), JSS University, India. He has PhD in reproductive genetics from the department of biomedical Genetics, VIT University, India. His PhD title was on Multiparametric Approach to study the Genetic Ethiology of Polycystic Ovary Syndrome. His area of research include cytogenetics, female infertility, medical genetics , Nutrigenetics, currently he is guiding 4 PhD scholars and have nearly 40 publication in all reputed scientific journals and also serving as an editorial board member of several reputed journals. In academics she has been appointed as Deputy Chief Supernatant Examination for conducting semester examination for all B.Sc and M.Sc courses. He is also serving as members in various boards of studies among few colleges and university here in India.