dc.contributor.author |
Kerékgyártó, Márta Zsuzsa |
|
dc.contributor.author |
Németh, Nóra |
|
dc.contributor.author |
Kerekes T |
|
dc.contributor.author |
Rónai, Zsolt |
|
dc.contributor.author |
Guttman, András |
|
dc.date.accessioned |
2016-04-11T09:55:13Z |
|
dc.date.available |
2016-04-11T09:55:13Z |
|
dc.date.issued |
2013 |
|
dc.identifier.citation |
pagination=229-234;journalVolume=1286;journalTitle=JOURNAL OF CHROMATOGRAPHY A; |
hu |
dc.identifier.uri |
http://repo.lib.semmelweis.hu//handle/123456789/1056 |
|
dc.identifier.uri |
doi:10.1016/j.chroma.2013.02.062 |
|
dc.description.abstract |
The transmembrane protein wolframin (WSF1) plays a crucial role in cell integrity in pancreatic beta cells and maintaining ER homeostasis. Genetic variations in the WFS1 gene have been described to be associated with Wolfram syndrome or type 2 diabetes mellitus. In this paper we report on an efficient double-tube allele-specific amplification method in conjunction with ultrafast capillary gel electrophoresis for direct haplotyping analysis of the SNPs in two important miRNA-binding sites (rs1046322 and rs9457) in the WFS1 gene. An automated single-channel capillary gel electrophoresis system was utilized in the method that provided dsDNA fragment analysis in less than 240 s. The light-emitting diode induced fluorescence (LEDIF) detection system enabled excellent sensitivity for automated haplotyping of a large number of clinical samples. The detection limit was 0.002 ng/muL using field amplified injection from water diluted samples. The dynamic quantitation range was 0.08-10.00 ng/muL (R(2)=0.9997) in buffer diluted samples. |
hu |
dc.relation.ispartof |
urn:issn:0021-9673 |
|
dc.title |
Ultrafast haplotyping of putative microRNA-binding sites in the WFS1 gene by multiplex polymerase chain reaction and capillary gel electrophoresis. |
hu |
dc.type |
Journal Article |
hu |
dc.date.updated |
2015-01-13T15:04:44Z |
|
dc.language.rfc3066 |
en |
hu |
dc.identifier.mtmt |
2302189 |
|
dc.identifier.wos |
000317156100027 |
|
dc.identifier.pubmed |
23499253 |
|
dc.contributor.department |
PE/MIK/MUKKI/MTA-PE Lendület Transzlációs Glikomika Kutatócsoport |
|
dc.contributor.department |
DE/OEC/ÁOK/Molekuláris Medicina Kutatóközpont |
|
dc.contributor.department |
SE/AOK/I/Orvosi Vegytani, Molekuláris Biológiai és Patobiokémiai Intézet |
|
dc.contributor.institution |
Pannon Egyetem |
|