伊朗子宫平滑肌瘤患者外显子1的突变筛查
Exon 1 Mutational Screening in Iranian Patients with Uterine Leiomyoma.
作者信息
Akbari Mojdeh, Abedin Do Atieh, Yassaee Fakhrolmolouk, Mirfakhraie Reza
机构信息
Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Department of Obstetrics and Gynecology, Taleghani Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
出版信息
Rep Biochem Mol Biol. 2019 Apr;8(1):21-24.
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 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 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 in our samples.
CONCLUSION
According to the literature and the present results, mutations in the exon 1 are rare. However, we could not ignore the role of these mutations in developing leiomyoma.
背景
子宫平滑肌瘤，也称为纤维瘤，是一种由子宫肌层（子宫的平滑肌细胞层）单克隆转化引起的良性肿瘤。纤维瘤会引发多种并发症，包括不孕、流产、出血、疼痛和痛经。最近的研究揭示了不同人群中基因外显子2突变的作用；然而，这些突变的报告频率在不同报告之间有所差异。此外，有研究表明外显子1的突变可能也在平滑肌瘤中起作用。本研究的目的是筛查伊朗患者平滑肌瘤组织样本中的外显子1突变。
方法
我们使用多温度单链构象多态性（MSSCP）和测序分析对120个子宫平滑肌瘤样本的外显子1及其侧翼内含子区域进行了突变分析。
结果
在我们的样本中，未在外显子1中检测到突变。
结论
根据文献和目前的结果，外显子1的突变很少见。然而，我们不能忽视这些突变在平滑肌瘤发生过程中的作用。
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