Ar tuberkulozi saistīto izoniazīda farmakogēnu NGS analīze.
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Date
2023
Authors
Journal Title
Journal ISSN
Volume Title
Publisher
Rīgas Stradiņa universitāte
Rīga Stradiņš University
Rīga Stradiņš University
Abstract
Anotācija
Pētnieciskā darba "Ar tuberkulozi saistīto izoniazīda farmakogēnu NGS analīze" mērķis ir veikt klīnisko paraugu kopas Nr.2 izpēti, t.i., noteikt atlasītajos gēnos esošās mutācijas, izmantojot iepriekš izstrādātu metodiku, un veikt iegūto rezultātu interpretāciju.
Pētījuma uzdevumi
• veikt pieejamas literatūras analīzi par tuberkulozi, izoniazīda hepatotoksicitāti, ka arī gēnu NAT2, GSTM1, GSTT1 polimorfismu.
• aprakstīt un raksturot izoniazīda hepatotoksicitātes ģenētiskos cēloņus
• iegūt amplikonus uz polimerāzes ķēdes reakcijas pamata un izmantot tos nākamās paaudzes sekvencēšanas protokola izstrādē,
• veikt klīnisko paraugu analīzi, pielietojot izstrādāto metodi.
Pētnieciskā darbā “Ar tuberkulozi saistīto izoniazīda farmakogēnu NGS analīze” tika noteikts NAT2 gēna polimorfismi, kas ir atbildīgi par lēnu acetilēšanu. Ir noskaidrots, ka GSTM1 gēnā dominē (0) genotips. GSTT1 gēna gadījumā tika novēroti pretēji rezultāti - dominē arī (+) genotipi.
Annotation The purpose of study " NGS analysis of isoniazid pharmacogenes associated with tuberculosis" is to conduct research on clinical sample set No. 2, i.e. to determine the mutations present in the selected genes using a previously developed methodology, and to interpret the obtained results. Research methodology: • perform an analysis of the available literature on tuberculosis, isoniazid hepatotoxicity, as well as polymorphism of genes NAT2, GSTM1, GSTT1. • describe and characterize the genetic causes of isoniazid hepatotoxicity • obtain amplicons based on the polymerase chain reaction and use them in the development of the next generation sequencing protocol, • analyze clinical samples using the developed method. In the research work "NGS analysis of isoniazid pharmacogenes associated with tuberculosis", NAT2 gene polymorphisms responsible for slow acetylation were identified. It has been established that the (0) genotype is dominant in the GSTM1 gene. In the case of the GSTT1 gene, the opposite results were observed - the (+) genotypes are also dominant.
Annotation The purpose of study " NGS analysis of isoniazid pharmacogenes associated with tuberculosis" is to conduct research on clinical sample set No. 2, i.e. to determine the mutations present in the selected genes using a previously developed methodology, and to interpret the obtained results. Research methodology: • perform an analysis of the available literature on tuberculosis, isoniazid hepatotoxicity, as well as polymorphism of genes NAT2, GSTM1, GSTT1. • describe and characterize the genetic causes of isoniazid hepatotoxicity • obtain amplicons based on the polymerase chain reaction and use them in the development of the next generation sequencing protocol, • analyze clinical samples using the developed method. In the research work "NGS analysis of isoniazid pharmacogenes associated with tuberculosis", NAT2 gene polymorphisms responsible for slow acetylation were identified. It has been established that the (0) genotype is dominant in the GSTM1 gene. In the case of the GSTT1 gene, the opposite results were observed - the (+) genotypes are also dominant.
Description
Farmācija
Pharmacy
Veselības aprūpe
Health Care
Pharmacy
Veselības aprūpe
Health Care
Keywords
"tuberkuloze", "tuberkulozes vadlīnijas", "hepatotoksicitāte", "izoniazīds", "polimorfisms", "NAT2", "GSTM1", "GSTT1", "NGS"., "tuberculosis", "tuberculosis guidelines", "hepatotoxicity", "isoniazid", "polymorphism", "NAT2", "GSTM1", "GSTT1", "NGS ".