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MED12 exon 2 mutations in uterine leiomyoma’s in women patients of Tehran Province of Iran

Ali Reza Ahmadi, Hajar Porrahim, Hajar Moghadasi, Naeimeh Najafi, Azadeh Rakhshan

Abstract


Uterine leiomyomas or fibroids are benign smooth muscle tumors of myometrial origin; frequently found in reproductive age women. Uterine leiomyomas commonly cause significant symptoms such as anemia resulting from heavy irregular uterine bleeding, Pelvic discomfort, and bowel/bladder dysfunction from pressure. Fibroids have also been associated with infertility and recurrent abortion. Somatic mutations in MED12 exon 2 have recently been reported in uterine leiomyomas. The aim of our study was to see whether MED12 exon 2 mutations occur in uterine leiomyomas of women patients of Tehran Province of Iran. Mutations in exon 2 of the MED12 gene have been reported in 50% to 70% of uterine leiomyomas. To determine the frequency of MED12 mutations in various types of smooth muscle tumors as well as normal uterine myometrium adjacent to a leiomyoma, we selected a total of 23 cases for analysis of MED12 exon 2 mutations by polymerase chain reaction and Sanger sequencing. We found that 65℅ of classical uterine leiomyomas harbored mutations in exon 2 of the MED12 gene. Twelve of these mutations were located in codon 44 (c.130-132). In addition, one fibroids 0/43% displayed a missense mutation in codon 36 (c.107).We also observed two (0/86) exonic deletion type.


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