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Naslov:High-resolution melting curve analysis for high-throughput genotyping of NOD2/CARD15 mutations and distribution of these mutations in Slovenian inflammatory bowel diseases patients
Avtorji:ID Mitrovič, Mitja (Avtor)
ID Potočnik, Uroš (Avtor)
Datoteke:.pdf Disease_Markers_2011_Mitrovic,_Potocnik_High-resolution_melting_curve_analysis_for_high-throughput_genotyping_of_NOD2CARD15_mutations_an.pdf (1,72 MB)
MD5: 4614CA726E6206C26EA58740E6F0B82C
 
URL https://www.hindawi.com/journals/dm/2011/209101/abs/
 
Jezik:Angleški jezik
Vrsta gradiva:Znanstveno delo
Tipologija:1.01 - Izvirni znanstveni članek
Organizacija:FKKT - Fakulteta za kemijo in kemijsko tehnologijo
Opis:Inflammatory bowel diseases (IBD) are usually classified into Crohn's disease (CD) and ulcerative colitis (UC). NOD2/CARD15 was the first identified CD-susceptibility gene and was confirmed as the most potent disease gene in CD pathogenesis. Three NOD2/CARD15 variants, namely two missense polymorphisms R702W (rs2066844) and G908R (rs2066845), and a frame shift polymorphism L1007fs (rs2066847), were associated with CD in Caucasian populations. High resolution melting analysis (HRMA) with saturation LCGreen dyes was previously reported as a simple, inexpensive, accurate and sensitive method for genotyping and/or scanning of rare variants. For this reasons we used qPCR-HRMA for genotyping NOD2/CARD15 variants in 588 Slovenian IBD patients and 256 healthy controls. PCR-RFLP was used as a reference method for genotyping of clinical samples. The optimization of an HRM experiment required careful design and adjustment of main parameters, such as primer concentration, MgCl_{2} concentration, probe design and template DNA concentration. Different HRMA approaches were tested and used to develop a reliable and low-cost SNP genotyping assays for polymorphisms in NOD2/CARD15 gene. Direct HRMA was the fastest and cheapest HRMA approach for L1007fs and R702W polymorphisms, yet for G908R polymorphism sufficient reliability was achieved after introduction of unlabeled probe. In association analysis, we found statistically significant association of L1007fs (p =0.001, OR=3.011, CI95%=1.494-6.071) and G908R (p=2.62 * 10^{-4}, OR=14.117, CI95%= 1.884-105.799) polymorphisms with CD patients. At least one of NOD2/CARD15 polymorphisms was found in 78/354 (22.03% (12.69%) in UC patients and in 26/256 (10.15%) in healthy controls. We have successfully implemented NOD2/CARD15 HRMA assays, which may contribute to the development of genetic profiles for risk prediction of developing CD and for differential diagnosis of CD vs. UC.
Ključne besede:high-resolution melting analysis, NOD2/CARD15, inflammatory bowel diseases
Status publikacije:Objavljeno
Verzija publikacije:Objavljena publikacija
Leto izida:2011
Št. strani:str. 265-274
Številčenje:Letn. 30, št. 5
PID:20.500.12556/DKUM-66185 Novo okno
ISSN:0278-0240
UDK:616.3
COBISS.SI-ID:15127062 Novo okno
DOI:10.3233/DMA-2011-0783 Novo okno
ISSN pri članku:0278-0240
NUK URN:URN:SI:UM:DK:5CDAT9GI
Datum objave v DKUM:14.06.2017
Število ogledov:1516
Število prenosov:355
Metapodatki:XML DC-XML DC-RDF
Področja:Ostalo
:
MITROVIČ, Mitja in POTOČNIK, Uroš, 2011, High-resolution melting curve analysis for high-throughput genotyping of NOD2/CARD15 mutations and distribution of these mutations in Slovenian inflammatory bowel diseases patients. Disease Markers [na spletu]. 2011. Vol. 30, no. 5, p. 265–274. [Dostopano 10 april 2025]. DOI 10.3233/DMA-2011-0783. Pridobljeno s: https://dk.um.si/IzpisGradiva.php?lang=slv&id=66185
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Gradivo je del revije

Naslov:Disease Markers
Skrajšan naslov:Dis. Markers
Založnik:Hindawi Publishing Corporation
ISSN:0278-0240
COBISS.SI-ID:1533717 Novo okno

Gradivo je financirano iz projekta

Financer:ARRS - Agencija za raziskovalno dejavnost Republike Slovenije
Številka projekta:J3-2175
Naslov:Gentski dejavniki tveganja in farmakogenomika kronično vnetne črevesne bolezni

Licence

Licenca:CC BY 4.0, Creative Commons Priznanje avtorstva 4.0 Mednarodna
Povezava:http://creativecommons.org/licenses/by/4.0/deed.sl
Opis:To je standardna licenca Creative Commons, ki daje uporabnikom največ možnosti za nadaljnjo uporabo dela, pri čemer morajo navesti avtorja.
Začetek licenciranja:14.06.2017

Sekundarni jezik

Jezik:Slovenski jezik
Ključne besede:kronično vnetna črevesna bolezen


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