Alterations of Copy Number of Methylation Pattern in Mismatch Repair Genes by Methylation Specific-Multiplex Ligation-Dependent Probe Amplification in Cases of Colon Cancer
العنوان: | Alterations of Copy Number of Methylation Pattern in Mismatch Repair Genes by Methylation Specific-Multiplex Ligation-Dependent Probe Amplification in Cases of Colon Cancer |
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المؤلفون: | Serap Tutgun Onrat, A. Kupelioglu, E. Ellidokuz, I. Çeken |
المصدر: | Balkan Journal of Medical Genetics : BJMG Balkan Journal of Medical Genetics, Vol 14, Iss 2, Pp 25-34 (2011) |
سنة النشر: | 2011 |
مصطلحات موضوعية: | Genetics, congenital, hereditary, and neonatal diseases and abnormalities, Copy number, Biology, QH426-470, Molecular biology, Methylation, digestive system diseases, Colon cancer, MSH6, Methylation specific-multiplex ligation-dependent probe amplification (MS-MLPA), genomic DNA, MSH3, methylation specificmultiplex ligation-dependent probe amplification (ms-mlpa), MSH2, DNA methylation, PMS2, DNA mismatch repair, Original Article, Multiplex ligation-dependent probe amplification, Genetics (clinical), Mismatched repair (MMR) Genes |
الوصف: | 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-ML-PA), 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. We found the mean methylation rates for MLH1 (97.14%), MSH2 (24.28%), MSH6 (MutS homolog 6) (67.14%), MSH3 (MutS homolog 3) (78.57%), MLH3 (MutL homolog 3) (75.71%), PMS2 (postmeiotic segregation increased 2) (65.71%), MGMT(O-6-methylguanine-DNA methyltransferase ) (82.85%). We conclude that the mismatch repair (MMR) system is critical for the maintenance of genomic stability. |
اللغة: | English |
URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc6db8fb21173861c9e00d7bddefeedd https://avesis.deu.edu.tr/publication/details/b101be8d-8646-4b25-80bf-b78d46cad0e3/oai |
حقوق: | OPEN |
رقم الأكسشن: | edsair.doi.dedup.....fc6db8fb21173861c9e00d7bddefeedd |
قاعدة البيانات: | OpenAIRE |
الوصف غير متاح. |