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高分辨熔解曲线分析方法检测子宫肌瘤MED12基因突变 被引量:1

High- resolution melting curve analysis for detection of MED12 gene mutation in uterine leiomyomas
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摘要 目的建立高分辨熔解曲线分析(HRMA)检测子宫平滑肌瘤MED12基因突变。方法针对MEDl2基因突变位点设计PCR扩增引物,对60例子宫肌瘤标本进行PCR扩增。用HRMA技术对PCR产物进行突变分析,并通过DNA测序技术对HRMA结果进行验证。结果60例子宫平滑肌瘤样本中,HRMA检出MED12基因突变率为53.3%(33/60),测序法检出突变率为51.7%(31/60),两者比较差异无统计学意义(r=0.0335,P=0.885)。两者符合率为96.7%(58/60)。结论本研究成功建立HRMA技术检测MED12基因突变,可用于临床子宫肌瘤标本的检测。 Objective To establish a high-resolution melting curve analysis (HRMA) for detection of MED12 gene mutation in uterine leiomyomas. Methods PCR amplification primers were designed for the loci of MED12 gene mutations. Sixty uterine leiomyoma samples were processed for PCR amplification, and the mutation in PCR products were analyzed by HRMA. The results of the HRMA were verified by DNA sequencing techniques. Results In the 60 uterine leiomyoma samples, the rate of MED12 gene mutation detected by HRMA was 53.3% (33/60) compared with 51.7% (31/60) detected by the DNA sequencing, with no statistical difference between the two methods (X2=0.0335, P=0.885). The coincidence rate was 96.7% (58/60). Conclusion HRMA for detection of MED12 gene mutation is successfully established, which can be used for the detection of clinical specimens of uterine leiomyomas.
出处 《中华生物医学工程杂志》 CAS 2014年第5期385-388,共4页 Chinese Journal of Biomedical Engineering
基金 江苏大学2012年度医学临床科技发展基金项目(JLY20120130) 泰州市社会发展项目(TS2013009) 江苏省卫生厅面上项目(H201456)
关键词 DNA突变分析 基因表达调控 肿瘤 子宫肿瘤 高分辨熔解曲线分析 DNA mutational analysis Gene expression regulation, neoplastic Uterineneoplasms High-resolution melting curve analysis
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  • 1Taatjes DJ. The human Mediator complex: a versatile, genome- wide regulator of transcription [J]. Trends Biochem Sci, 2010, 35 : 315-322.
  • 2Mukinen N, Mehine M, Tolvanen J, et al. MED12, the mediator complex subunit 12 gene, is mutated at high frequency in uterine leiomyomas[J]. Science, 2011, 334: 252-255.
  • 3Makinen N, Heinonen HR, Moore S, et al. MED12 exon 2 mutations are common in uterine leiomyomas from South African patients [ J ]. Oncotarget, 2011,2 : 966-969.
  • 4McGuire MM, Yatsenko A, Hoffner L, et al. Whole exome sequencing in a random sample of North American women with leiomyomas identifies MED12 mutations in majority of uterine leiomyomas[J]. PLoS One, 2012, 7:e33251.
  • 5Baird DD, Dunson DB, Hill MC, et al. High cumulative incidence of uterine leiomyoma in black and white women : ultrasound evidence [J]. Am J Obstet Gyneco1,2003 , 188 : 100-107.
  • 6Marshall LM, Spiegelman D, Barbieri RL, et al. Variation in the incidence of uterine leiomyoma among premenopausal women by age and race[J]. Ohstet Gynecul, 1997,90:967-973.
  • 7Huyck KL, Panhuysen CI, Cuenco KT, et al. The impact of race as a risk factor for symptom severity and age at diagnosis of uterine leiomyomata among affected sisters [J]. Am J Obstet Gynecol, 2008, 198 : 168.e1-e9.
  • 8Templeman C, Marshall SF, Clarke CA, et al. Risk factors for surgically removed fibroids in a large cohort of teachers [J]. Fertil Steril, 2009,92 : 1436-1446.
  • 9Philibert RA, Madan A. Role of MED12 in transcription and human behavior [J ]. Pharmacogenomics, 2007, 8 : 909-916.
  • 10Tutter AV, Kowalski MP, Baltus GA, et al. Role for Medl2 in regulation of Nanog and Nanog target genes [J]. J Biol Chem , 2009, 284: 3709-3718.

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