Osinovskaya N S, Ivashchenko T E, Dolinskii A K, Sultanov I Yu, Ghimbovchi S, Hoffman E, Bezhenar V F, Baranov V S
Genetika. 2013 Dec;49(12):1426-31.
Uterine leiomyoma (UL) is a benign and most common tumor that affects 20-45% of women of fertile age. In this study, we analyzed the MED12 second exon nucleotide sequence from 15 DNA samples extracted from LM of 15 subjects with uterine leiomyoma and 15 DNA samples extracted from peripheral blood leukocytes of the same female subjects. It was shown that somatic mutations in the MED12 gene occur in 73% of cases with deletions of varying sizes and missense mutations being most common at codon 44. Mutations in the MED12 gene could play an indirect role in leiomyoma progression by modifying the activity of other genes that encode proteins involved in growth and tumor progression.
子宫平滑肌瘤（UL）是一种良性且最常见的肿瘤，影响20%至45%的育龄女性。在本研究中，我们分析了从15名子宫平滑肌瘤患者的平滑肌瘤（LM）中提取的15份DNA样本以及从同一女性受试者外周血白细胞中提取的15份DNA样本的MED12第二外显子核苷酸序列。结果显示，MED12基因的体细胞突变在73%的病例中出现，存在不同大小的缺失，错义突变在密码子44处最为常见。MED12基因的突变可能通过改变其他编码参与生长和肿瘤进展的蛋白质的基因的活性，在平滑肌瘤进展中发挥间接作用。
