CpG dinucleotides in the hMSH2 and hMLHI genes are hotspots for HNPCC mutations
| العنوان: | CpG dinucleotides in the hMSH2 and hMLHI genes are hotspots for HNPCC mutations |
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| المؤلفون: | Pablo Alday, Yuri K. Maliaka, Nicodim F. Belev, Jean-Marie Buerstedde, Nikolay P. Bochkov, Alla P. Chudina |
| المصدر: | Human Genetics. 97:251-255 |
| بيانات النشر: | Springer Science and Business Media LLC, 1996. |
| سنة النشر: | 1996 |
| مصطلحات موضوعية: | Genetics, congenital, hereditary, and neonatal diseases and abnormalities, nutritional and metabolic diseases, Biology, digestive system diseases, Human genetics, CpG site, Genetic marker, RNA splicing, Coding region, Microsatellite, DNA mismatch repair, Gene, Genetics (clinical) |
| الوصف: | Hereditary nonpolyposis colon cancer (HN-PCC) is an autosomally inherited predisposition to cancer that has recently been linked to defects in the human mismatch repair genes hMSH2 and hMLHI. The identification of the causative mutations in HNPCC families is desirable, since it confirms the diagnosis and allows the carrier status of unaffected relatives at risk to be determined. We report six different new mutations identified in the hMSH2 and hMLH1 genes of Russian and Moldavian HNPCC families. Three of these mutations occur in CpG dinucleotides and lead to a premature stop codon, a splicing defect or an amino-acid substitution in an evolutionary conserved residue. Analysis of a compilation of published mutations including our new data suggests that CpG dinucleotides within the coding regions of the hMSH2 and hMLH1 genes are hotspots for single base-pair substitutions. |
| تدمد: | 1432-1203 0340-6717 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_________::7458e41160bbb1ec57322ddf798806e7Test https://doi.org/10.1007/bf02265276Test |
| حقوق: | CLOSED |
| رقم الانضمام: | edsair.doi...........7458e41160bbb1ec57322ddf798806e7 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 14321203 03406717 |
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