Reports of Biochemistry and Molecular Biology

en MED12 Exon 1 Mutational Screening in Iranian Patients with Uterine Leiomyoma زیست شناسی ملکولی Molecular Biology مقالات اصلی Original Article <div style="text-align: justify;">Background: Uterine leiomyoma, also called fibroid, is a benign tumor that arises due to monoclonal transformation of myometrium, the smooth muscle cell layer of the uterus. Fibroids cause several complications including infertility, miscarriage, bleeding, pain, and dysmenorrhea. Recent studies have revealed the role of mutations in MED12 gene exon 2 in various populations; however, the reported frequency of these mutations differs between reports. In addition, it is suggested that mutations in exon 1 may also play a role in leiomyoma. The aim of the present study was to screen for MED12 exon 1 mutations in leiomyoma tissue samples of Iranian patients.                                                    . Methods: We performed mutational analysis of exon 1 and the flanking intronic regions using multi-temperature single-strand conformational polymorphism (MSSCP) and sequencing analyses in 120 uterine leiomyoma samples. Results: No mutations were detected in exon 1 of MED12 in our samples. Conclusions: According to the literature and the present results, mutations in the MED12 exon 1 are rare. However, we could not ignore the role of these mutations in developing leiomyoma.  </div> Exon 1, MED12, Mutation, Uterine leiomyoma. 21 24 http://rbmb.net/browse.php?a_code=A-10-260-1&slc_lang=en&sid=1 Mojdeh Akbari 100319475328460017128 100319475328460017128 No Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Atieh Abedin Do 100319475328460017129 100319475328460017129 No Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Fakhrolmolouk Yassaee reza_mirfakhraie@yahoo.com 100319475328460017130 100319475328460017130 No Department of Obstetrics and Gynecology, Taleghani Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Reza Mirfakhraie 100319475328460017131 100319475328460017131 Yes Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran & Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.