Verification oft the method to determine the polymorphism Q192R gene pon1 in patients with peripheral arterial stenosis

Vodopija, Maja (2012) Verification oft the method to determine the polymorphism Q192R gene pon1 in patients with peripheral arterial stenosis. Diploma thesis, Faculty of Science > Department of Biology.

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Abstract

Molecular genetic methods are highly specific methods that can directly or indirectly on the level of nucleic acid determine the presence or absence of mutations, gene copy number or the number of repeating units in genome. It is necessary for the verification or assessment of acceptability for molecular genetic methods to examine the entire laboratory process eligibility, many of these procedures and working protocols are standardized and are available today in the form of recommendations of the National Committee for Clinical Laboratory Standards (NCLSI) and guidelines for good laboratory practice so their adoption is a prerequisite for applying some of the molecular genetic methods in the clinical or scientific research purposes. The main goal of this research was the verification, assessment of acceptability used molecular genetic method in the clinical or scientific research purposes. The specific aim was to investigate the Q192R polymorphism in the coding gene pon1 in patients with peripheral arterial stenosis. Genetic polymorphism of paraoxonase in codon 192 (Gln → Arg) is a substrate-specific, and references from the literature suggest that it could be an independent risk factor for developing atherosclerosis. Used (PCR-RFLP) method for determination of gene pon1 Q192R polymorphism has met all criteria set by biological analytical quality, professional and other clinically relevant criteria. Routine measurement of gene pon1 Q192R polymorphisms in patients with peripheral arterial stenosis and control group patients showed no statistically significant difference in genotype and allele frequencies between controls and patient groups.

Item Type: Thesis (Diploma thesis)
Keywords: verification of the method, PCR, RFLP, pon1 gene, Q192R polymorphism
Supervisor: Kardum Paro, Mirjana Mariana and Marijanović, Inga
Date: 2012
Number of Pages: 35
Subjects: NATURAL SCIENCES > Biology
Divisions: Faculty of Science > Department of Biology
Depositing User: Grozdana Sirotic
Date Deposited: 10 Mar 2014 10:16
Last Modified: 22 Sep 2014 08:23
URI: http://digre.pmf.unizg.hr/id/eprint/554

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