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dc.contributor.author Jaczo Z
dc.contributor.author Pal E
dc.contributor.author Denes R
dc.contributor.author Somogyi, Anikó
dc.contributor.author Sasvári-Székely, Mária
dc.contributor.author Guttman, András
dc.contributor.author Rónai, Zsolt
dc.date.accessioned 2016-04-11T08:45:06Z
dc.date.available 2016-04-11T08:45:06Z
dc.date.issued 2015
dc.identifier 84930576281
dc.identifier.citation pagination=1237-1243; journalVolume=36; journalIssueNumber=11-12; journalTitle=ELECTROPHORESIS;
dc.identifier.uri http://repo.lib.semmelweis.hu//handle/123456789/2781
dc.identifier.uri doi:10.1002/elps.201400551
dc.description.abstract Despite of the fact that the Human Genome Project was completed more than a decade ago, identification of the genetic background of polygenic diseases is still challenging. Several somewhat different approaches are available to investigate inheritable factors of complex phenotypes, all require, however efficient, high-throughput techniques for SNP genotyping. In this paper we report a robust and reliable multiplex PCR-RFLP for genotype and haplotype analysis of 6 SNPs (rs41270082, rs3748051, rs142027015, rs3748048, rs73404011 and rs72925892) of the CLPS gene. A multicapillary (12 capillaries) electrophoresis unit was used for high throughput and sensitive analysis of the digestion fragments. A Microsoft Excel-based spreadsheet was designed for the flexible visualization and evaluation of the electrophoretic separations, which is readily adaptable for any kind of electrophoresis application. Haplotype analysis of the two loci localized in close proximity of each other was carried out by molecular method, extended haplotypes including all 5 SNPs in the 5' upstream region were calculated. The techniques were applied in a case-control association study of type 2 diabetes mellitus. Although, single marker analysis did not reveal any significant association, it was observed that the rare GGCCG haplotype of the five 5' upstream region SNPs was about three times more frequent among patients compared to healthy control population. Our results demonstrated the applicability of multicapillary CGE in large-scale, high-throughput SNP analysis and suggested that the CLPS gene polymorphisms might be considered as genetic risk factor for type 2 diabetes mellitus.
dc.relation.ispartof urn:issn:0173-0835
dc.title Rapid Analysis of Colipase Gene Variants by Multicapillary Electrophoresis.
dc.type Journal Article
dc.date.updated 2015-11-26T08:42:47Z
dc.language.rfc3066 en
dc.identifier.mtmt 2806509
dc.identifier.wos WOS:000356004200002
dc.identifier.pubmed 25502231
dc.contributor.department PE/MIK/MUKKI/MTA-PE Lendület Transzlációs Glikomika Kutatócsoport
dc.contributor.department SE/AOK/K/II. Sz. Belgyógyászati Klinika
dc.contributor.department SE/AOK/I/Orvosi Vegytani, Molekuláris Biológiai és Patobiokémiai Intézet
dc.contributor.institution Pannon Egyetem
dc.contributor.institution Semmelweis Egyetem


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