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Reports of Biochemistry and Molecular Biology
rbmb.net
Basic Sciences
http://rbmb.net
1
admin
2322-3480
2322-3480
10.61882/rbmb
en
jalali
1398
2
1
gregorian
2019
5
1
8
1
online
1
fulltext
en
<em>MED12</em> Exon 1 Mutational Screening in Iranian Patients with Uterine Leiomyoma
زیست شناسی ملکولی
Molecular Biology
مقالات اصلی
Original Article
<div style="text-align: justify;"><strong><em>Background:</em></strong> 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 <em>MED12</em> 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 <em>MED12</em> exon 1 mutations in leiomyoma tissue samples of Iranian patients. <br>
.<br>
<strong><em>Methods:</em></strong> 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.<br>
<br>
<strong><em>Results:</em></strong> No mutations were detected in exon 1 of <em>MED12</em> in our samples.<br>
<br>
<strong><em>Conclusions:</em></strong> According to the literature and the present results, mutations in the <em>MED12</em> exon 1 are rare. However, we could not ignore the role of these mutations in developing leiomyoma.<br>
</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.