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Title:Določanje polimorfizmov in mutacij v genih MLH1 in MSH2 pri nepolipoznem raku debelega črevesa
Authors:ID Stegel, Vida (Author)
ID Novaković, Srdjan (Author)
Files:.pdf PDF - Presentation file, download (228,70 KB)
MD5: 1A0029FC023BF6B42256CDEAC1193576
PID: 20.500.12556/dirros/36de2114-42b6-4ef3-a340-ba3bd208f690
 
Language:Slovenian
Typology:1.03 - Other scientific articles
Organization:Logo OI - Institute of Oncology
Abstract:Rak debelega črevesa prizadene v Sloveniji okrog 1200 ljudi na leto. Dedni rak debelega črevesa (dedni nepolipozni rak debelega črevesa - HNPCC in družinska adematozna polipoza - FAP) predstavlja približno 10% vseh rakov debelega črevesa in danke. Pregledali smo 32 vzorcev bolnikov z rakom debelega črevesa. Z metodo HRM (analiza talitvene krivulje z visoko ločljivostjo) smo presejali gena MLH1 in MSH2. Z metodo PCR smo pomnožili vse eksone genov MLH1 in MSH2 (»missmach repair« geni – MMR). Vse PCR produkte smo obarvali z interkalirajočim barvilom, nato pa naredili analizo talitvene krivulje produkta. PCR produkte, katerih talitvena krivulja je odstopala od kontrolne smo sekvenirali. Našli smo 5 različnih mutacij, 2 neopredeljene variacije in 13 polimorfizmov. Med mutacijami smo našli 1 delecijo, 2 mutaciji izrezovalnih mest in 2 mutaciji, ki povzročita spremembo aminokisline.
Publication status:Published
Publication version:Version of Record
Year of publishing:2008
Number of pages:str. 129-131
Numbering:Letn. 12, št. 2
PID:20.500.12556/DiRROS-9039 New window
UDC:616.3
ISSN on article:1408-1741
URN:URN:NBN:SI:doc-SA4G9Q0V
COBISS.SI-ID:25344217 New window
Copyright:by Authors
Note:BSDOCID143392;
Publication date in DiRROS:31.08.2018
Views:3932
Downloads:947
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Record is a part of a journal

Title:Onkologija
Shortened title:Onkologija
Publisher:Onkološki inštitut
ISSN:1408-1741
COBISS.SI-ID:65324032 New window

Licences

License:CC BY 4.0, Creative Commons Attribution 4.0 International
Link:http://creativecommons.org/licenses/by/4.0/
Description:This is the standard Creative Commons license that gives others maximum freedom to do what they want with the work as long as they credit the author.
Licensing start date:31.08.2018

Secondary language

Language:Undetermined
Title:Polymorphisms and MLH1 and MSH2 Gene Mutations in Non-Polyposis Colorectal Cancer
Abstract:Colorectal cancer affects approximately 1200 individuals in Slovenia every year. Hereditary colorectal cancer (hereditary non-polyposis colorectal cancer - HNPCC and familial adenomatous polyposis - FAP) accounts for around 10% of all colorectal cancers. Thirty-two colorectal patients were screened for DNA variations in MLH1 and MSH2 genes (miss-match repair genes- MMR genes). All patients were screened using high resolution melting (HRM). The exons of MLH1 and MSH2 genes were amplified using PCR (polymerase chain reaction). Amplified double stranded products were stained with intercalating dye and dissociated by heating. The melting curves of the tested samples were compared to the melting curve of the control and all PCR products, showing different melting curve than that of the control, were sequenced. We found 5 different mutations, 2 UVs (unclassified variants), 13 polymorphisms. Among mutations, 1 deletion, 2 splice-site mutations, and 2 missense mutations were found.


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