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undergraduate thesis
Primjena i značaj analize polimorfizma jednog nukleotida
2017. urn:nbn:hr:181:854896
Ištvanović, Josipa
Josip Juraj Strossmayer University of Osijek
Department of biology

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Ištvanović, J. (2017). Primjena i značaj analize polimorfizma jednog nukleotida (Undergraduate thesis). Osijek: Josip Juraj Strossmayer University of Osijek, Department of biology. Retrieved from https://urn.nsk.hr/urn:nbn:hr:181:854896

Ištvanović, Josipa. "Primjena i značaj analize polimorfizma jednog nukleotida." Undergraduate thesis, Josip Juraj Strossmayer University of Osijek, Department of biology, 2017. https://urn.nsk.hr/urn:nbn:hr:181:854896

Ištvanović, Josipa. "Primjena i značaj analize polimorfizma jednog nukleotida." Undergraduate thesis, Josip Juraj Strossmayer University of Osijek, Department of biology, 2017. https://urn.nsk.hr/urn:nbn:hr:181:854896

Ištvanović, J. (2017). 'Primjena i značaj analize polimorfizma jednog nukleotida', Undergraduate thesis, Josip Juraj Strossmayer University of Osijek, Department of biology, accessed 15 November 2024, https://urn.nsk.hr/urn:nbn:hr:181:854896

Ištvanović J. Primjena i značaj analize polimorfizma jednog nukleotida [Undergraduate thesis]. Osijek: Josip Juraj Strossmayer University of Osijek, Department of biology; 2017 [cited 2024 November 15] Available at: https://urn.nsk.hr/urn:nbn:hr:181:854896

J. Ištvanović, "Primjena i značaj analize polimorfizma jednog nukleotida", Undergraduate thesis, Josip Juraj Strossmayer University of Osijek, Department of biology, Osijek, 2017. Available at: https://urn.nsk.hr/urn:nbn:hr:181:854896

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Metadata
TitlePrimjena i značaj analize polimorfizma jednog nukleotida
Title (english)Application and impact of single nucleotide polymorphisms analysis
AuthorJosipa Ištvanović
MentorRosemary Vuković (mentor)
Committee memberRosemary Vuković (predsjednik povjerenstva)
GranterJosip Juraj Strossmayer University of Osijek
Department of biology
Osijek
Defense date and country2017-09-29, Croatia
Scientific / art field,
discipline and subdiscipline		NATURAL SCIENCES
Biology
Abstract
Veliki dio fenotipskih varijacija unutar iste vrste može se pripisati polimorfizmu jednog nukleotida (eng. single nucleotide polymorphism, SNP), promjeni jedne baze koja se pojavljuje u frekvenciji većoj od 1% unutar populacije. SNP-ovi se pojavljuju u kodirajućim i nekodirajućim regijama. Većina SNP-ova nalazi se u nekodirajućim regijama i nemaju izravni utjecaj na fenotip jedinke, dok se u kodirajućim regijama pojavljuju nesinonimni i sinonimni SNP-ovi te su povezani s funkcijom proteina koji uzrokuju različite fenotipe i bolesti. Različite metode omogućuju otkivanje polimorfnih područja. Najčešće metode koja se koriste prilikom otkrivanja SNP-ova su TaqMan test, pirosekvenciranje i denaturirajuća gradijent gel elektroforeza. Bolesti uzrokovane SNP-ovima su srpasta anemija i shizofrenija. Srpasta anemija je bolest kod koje dolazi do promjene u kodonu CTC u CAT uzrokujući sintezu valina umjesto glutamata što dovodi do bolesti crvenih krvnih stanica. Kod shizofrenije je prisutan sinonimni SNP unutar GRM3 koji upravlja sinaptičkom razinom glutamata. Proučavanje SNP-ova koristi se za fenotipizaciju i u farmakogenetici kako bi se otkrila povezanost SNP-ova s odgovorima organizma na lijekove.
Abstract (english)
A large portion of interspecies phenotypic variation can be attributed to single nucleotide polymorphism (SNP), single base changes occurring at a frequency greater than 1% within a population. SNPs exist throughout the entire genome, both within coding regions and outside coding regions. Most of SNPs are in outside coding regions and do not have a direct impact on the phenotype of individuals, while in coding regions we can find synonymous and nonsynonymous SNPs and they are associated with the function of proteins that cause different phenotypes and diseases. Different methods can detect polymorphic areas. Most commonly used methods for detecting SNPs are TaqMan assay, pyrosequencing and denaturing gradient gel electrophoresis (DGGE). Diseases caused by SNPs are sickle-cell anemia and schizophrenia. Sickle-cell anemia is a disease where changes in the CTC codon to CAT codon cause the synthesis of valine instead of glutamate which leads to red blood cell disease. In schizophrenia, a synonymous SNP is present within GRM3 (glutamate metabotropic receptor 3) which controls the synaptic glutamate level. SNPs are used for phenotyping and pharmacogenetics to detect the association of SNPs with response to drugs.
Keywords
Keywords (english)
Languagecroatian
URN:NBNurn:nbn:hr:181:854896
Study programmeTitle: Undergraduate University Study Programme in Biology (Bachelor of Science)
Study programme type: university
Study level: undergraduate
Academic / professional title: sveučilišni/a prvostupnik/prvostupnica (baccalaureus/baccalaurea) biologije (sveučilišni/a prvostupnik/prvostupnica (baccalaureus/baccalaurea) biologije)
Type of resourceText
File originBorn digital
Access conditionsOpen access
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Created on2017-10-02 10:40:13