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Pharmacogenetics VALIDATION OF GENE VARIANT TESTING IN PHARMACOGENETICS WITH SEQUENOM MASSARRAY AND PCR

Misrielal, P. (2015) Pharmacogenetics VALIDATION OF GENE VARIANT TESTING IN PHARMACOGENETICS WITH SEQUENOM MASSARRAY AND PCR. Master's Thesis / Essay, Biology.

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Abstract

Pharmacogenetics, also known as personalized medicine is “The study of variations in our genetic information as related to drug response and metabolism”. It concerns the study of interaction between genes and drugs, and its response in the individual. Research in this field of medicine has grown in the last decade. At the current state a standard dose of a drug is based on the average patient and not on the individual. It is known that genetic variation can cause a different metabolism and response of the body to the drug. Therefore, the aim is to provide patients with a personal advice of an optimal drug dose, and adverse reactions of the drug can be avoided. In this project a validation study of 11 genes of interest, a set of 71 Single Nucleotide Polymorphisms (SNPs), has been used in a multiplex assay. SNPs are tested by the technology Sequenom MassArray® Analyzer on 4 plexes and Copy Number Variants (CNVs) are tested by PCR and a separate capillary electrophoresis test or agarose gel electrophoresis. Different cohorts, containing saliva and blood DNA samples, are used in those different tests. The main goal of this project was to validate and improve SNP testing in pharmacogenetics, and to obtain valid results from the saliva samples. In this study it has been shown that approximately 92% of the tested SNPs were dectable in the multiplex assay. This validation study showed promising results for multiplex testing of SNPs and testing difficult CYP genes which are involved in the metabolism of several drugs. Pharmacogenetic testing can improve the treatment of drugs for an individual. More research is required to translate the genotypes of genes into haplotypes, and a script software has to be designed to automaticcaly report the results in haplotypes which can be interpreted by the physicians and pharmacists to implement into the dosing guidelines for the drugs of interests.

Item Type: Thesis (Master's Thesis / Essay)
Degree programme: Biology
Thesis type: Master's Thesis / Essay
Language: English
Date Deposited: 15 Feb 2018 08:08
Last Modified: 15 Feb 2018 08:08
URI: http://fse.studenttheses.ub.rug.nl/id/eprint/13302

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