title: High-resolution melting analysis of MED12 mutations in uterine leiomyomas in Chinese patients.
abstract: OBJECTIVE
  Somatic mutations in mediator complex subunit 12 (MED12) have emerged as a critical genetic change in the development of uterine leiomyomas. Studies, however, have focused largely on cohorts consisting of Caucasian patients. In this study, uterine leiomyomas from Chinese patients were examined for MED12 mutations. In addition, polymerase chain reaction (PCR)-based high-resolution melting analysis (HRMA) was compared with direct sequencing as a potentially more sensitive method for the detection of MED12 mutations.
  
  
  METHODS
  Tissue samples with the pathologies of uterine leiomyoma (n=181) and other endometrial diseases (n=157) were collected from Chinese patients at the Taizhou People's Hospital and Taizhou Polytechnic College (Taizhou City, China). Genomic DNA was prepared from all samples. Both PCR-based HRMA and PCR-based direct sequencing were used to detect MED12 mutations.
  
  
  RESULTS
  PCR-based HRMA and direct sequencing revealed MED12 mutations in 95/181 (52.5%) and 93/181 (51.4%) uterine leiomyomas, respectively. Nearly half of these mutations (46/93) were found in a single codon, codon 131. The coincidence rate between the two methods was 98.9% (179/181) so that no statistically significant difference was evident in the application of the methodologies (χ(2)=0.011, p=0.916). In addition, MED12 mutations were identified in 1/157 (4.17%) case of other endometrial pathologies by both methods.
  
  
  CONCLUSIONS
  MED12 mutations were closely associated with the development of uterine leiomyomas, as opposed to other uterine pathologies in Chinese patients, and PCR-based HRMA was found to be a reliable method for the detection of MED12 mutations.
authors.affiliation: 1 Department of Laboratory Medicine, Taizhou People's Hospital , Taizhou City, China .
authors.forename: Hua
authors.initials: H
authors.lastname: Wang
authors.forename: Jun
authors.initials: J
authors.lastname: Ye
authors.forename: Hua
authors.initials: H
authors.lastname: Qian
authors.forename: Ruifang
authors.initials: R
authors.lastname: Zhou
authors.forename: Jun
authors.initials: J
authors.lastname: Jiang
authors.forename: Lihua
authors.initials: L
authors.lastname: Ye
mesh_terms: D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007889:Leiomyoma / Q000235:genetics*; D056892:Mediator Complex / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D017422:Sequence Analysis, DNA / Q000379:methods; D014594:Uterine Neoplasms / Q000235:genetics*
chemical_list: C460107:MED12 protein, human; D056892:Mediator Complex