en زیست شناسی ملکولی Molecular Biology مقالات اصلی Original Article <div style="text-align: justify;"><em><strong>Introduction:</strong></em> polycystic ovary syndrome (PCOS) is the most common cause of ovarian dysfunction associated with infertility, Oligomenorrhea or amenorrhea, hirsutism, acne, and obesity. A large body of evidence unraveled, three major groups of genes play critical roles in underlying PCOS molecular mechanism. The aim of this study is to investigate critical exonic variant of <em>FSHR, CYP11</em>, and <em>INSR</em> and determine the functionality of these mutations in Iranian patients with PCOS.<br> <br> <em><strong>Materials and methods:</strong></em> In this case-control study, 130 patients with PCOS who referred to the Vali-e-Asr Hospital with infertility were included. 3 ml peripheral blood was taken from the participants for DNA extraction. PCR was conducted for each gene and the PCR product was genotyped by sequencing.<br> <br> <em><strong>Results:</strong></em> The data showed that there were two polymorphisms in <em>INSR</em> genes which did not change the protein sequences; these alterations can also be considered as a single nucleotide polymorphism (SNP). Moreover, any exonic variant has not been detected in <em>CYP11B1</em>. Whereas, two missense mutation have been detected in <em>FSHR</em> gene including p.Ala307Thr and p. Asn680Ser. It has been shown that the polymorphisms of the <em>FSHR</em> gene affect the hormone response in the ovaries. Our data demonstrated that the <em>FSHR</em> mutations frequencies were higher in the patients with PCOS rather than control people (without any infertility complication) significantly.<br> <br> <strong><em>Conclusion</em>: </strong>Altogether, our data showed that the polymorphisms of <em>FSHR</em> were significantly associated with PCOS in Iranian infertile women. Further studies with larger sample sizes are needed to be performed in order to explore the strength of the association.<br> &nbsp;</div> CYP11, FSHR, Infertile, INSR, PCOS, Polymorphisms. 470 477 http://rbmb.net/browse.php?a_code=A-10-526-1&slc_lang=en&sid=1 Elaheh Seyed Abutorabi 100319475328460017769 100319475328460017769 No Vali-e-Asr Reproductive Health Research center, Tehran University of Medical Sciences, Tehran, Iran Batool Hossein Rashidi bhrashidi@gmail.com 100319475328460017770 100319475328460017770 Yes Vali-e-Asr Reproductive Health Research center, Tehran University of Medical Sciences, Tehran, Iran Shiva Irani 100319475328460017771 100319475328460017771 No Department of Biology, Science and Research Branch, Islamic Azad University, Tehran, Iran. Fedyeh Haghollahi 100319475328460017772 100319475328460017772 No Vali-e-Asr Reproductive Health Research center, Tehran University of Medical Sciences, Tehran, Iran Maryam Bagheri 100319475328460017773 100319475328460017773 No Vali-e-Asr Reproductive Health Research center, Tehran University of Medical Sciences, Tehran, Iran