Alterations of Copy Number of Methylation Pattern in Mismatch Repair Genes by Methylation Specific-Multiplex Ligation-Dependent Probe Amplification in Cases of Colon Cancer

Onrat S., Çeken I., ELLİDOKUZ E. B., Kupelioğlu A.

Balkan Journal Of Medical Genetics, cilt.14, sa.2, 2011 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 14 Sayı: 2
  • Basım Tarihi: 2011
  • Doi Numarası: 10.2478/v10034-011-0044-x
  • Dergi Adı: Balkan Journal Of Medical Genetics
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Anahtar Kelimeler: Colon cancer, Methylation specific-multiplex ligation-dependent probe amplification (MS-MLPA), Mismatched repair (MMR) Genes, Methylation, Copy number, NONPOLYPOSIS COLORECTAL-CANCER, MICROSATELLITE INSTABILITY, PROMOTER HYPERMETHYLATION, DNA METHYLATION, MUTATIONS, HMLH1, TUMORS, MSH6, PREDISPOSITION, EXPRESSION
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

Genetic alterations and changes in genomic DNA cytosine methylation patterns are associated with all types of cancer and are caused by germline mutations in DNA mismatch repair (MMR) genes, predominantly MLH1 (MutL homolog 1, 19 exons) and MSH2 (MutS homolog 2, 16 exons). Genomic DNA was extracted from tissue samples embedded in paraffin from 49 patients with adenocarcinoma and from 21 patients with carcinoma for the study group; genomic DNA was extracted from lymphocytes from 10 healthy donors for the control group. We used methylation specific multiplex ligation-dependent probe amplification (MS-MLPA), which allows the detection of copy number changes and unusual methylation levels of 10 to 50 different sequences in one reaction by use of the methylation-sensitive restriction enzyme HhaI and sequence-specific capillary electrophoresis for the study of 24 genes.