prikaz prve stranice dokumenta Povezanost mutacije (egzon 7- V281L) gena CYP21A2 s haplotipovima HLA u Hrvatskoj
  Download
PDF 1.24 MB
master's thesis
Povezanost mutacije (egzon 7- V281L) gena CYP21A2 s haplotipovima HLA u Hrvatskoj
Zagreb: University of Zagreb, Faculty of Science, 2015. urn:nbn:hr:217:535534
Zvečić, Sabina
University of Zagreb
Faculty of Science
Department of Biology

Institutional repository: Repository of the Faculty of Science

Cite this document

Zvečić, S. (2015). Povezanost mutacije (egzon 7- V281L) gena CYP21A2 s haplotipovima HLA u Hrvatskoj (Master's thesis). Zagreb: University of Zagreb, Faculty of Science. Retrieved from https://urn.nsk.hr/urn:nbn:hr:217:535534

Zvečić, Sabina. "Povezanost mutacije (egzon 7- V281L) gena CYP21A2 s haplotipovima HLA u Hrvatskoj." Master's thesis, University of Zagreb, Faculty of Science, 2015. https://urn.nsk.hr/urn:nbn:hr:217:535534

Zvečić, Sabina. "Povezanost mutacije (egzon 7- V281L) gena CYP21A2 s haplotipovima HLA u Hrvatskoj." Master's thesis, University of Zagreb, Faculty of Science, 2015. https://urn.nsk.hr/urn:nbn:hr:217:535534

Zvečić, S. (2015). 'Povezanost mutacije (egzon 7- V281L) gena CYP21A2 s haplotipovima HLA u Hrvatskoj', Master's thesis, University of Zagreb, Faculty of Science, accessed 05 May 2024, https://urn.nsk.hr/urn:nbn:hr:217:535534

Zvečić S. Povezanost mutacije (egzon 7- V281L) gena CYP21A2 s haplotipovima HLA u Hrvatskoj [Master's thesis]. Zagreb: University of Zagreb, Faculty of Science; 2015 [cited 2024 May 05] Available at: https://urn.nsk.hr/urn:nbn:hr:217:535534

S. Zvečić, "Povezanost mutacije (egzon 7- V281L) gena CYP21A2 s haplotipovima HLA u Hrvatskoj", Master's thesis, University of Zagreb, Faculty of Science, Zagreb, 2015. Available at: https://urn.nsk.hr/urn:nbn:hr:217:535534

Metadata
TitlePovezanost mutacije (egzon 7- V281L) gena CYP21A2 s haplotipovima HLA u Hrvatskoj
Title (english)Association of EX 7 (V281L) mutation in CYP21A2 gene with HLA haplotypes in the Croatian population
AuthorSabina Zvečić
MentorZorana Grubić (mentor)
MentorAna Galov (mentor)
Committee memberAna Galov (predsjednik povjerenstva)
Committee memberRenata Šoštarić (član povjerenstva)
Committee memberMartina Šeruga Musić (član povjerenstva)
Committee memberIvančica Ternjej (član povjerenstva)
GranterUniversity of Zagreb
Faculty of Science
(Department of Biology)
Zagreb
Defense date and country2015-09-18, Croatia
Scientific / art field,
discipline and subdiscipline		NATURAL SCIENCES
Biology
Abstract
U ovom radu analizirana je učestalost mutacije gena CYP21A2 u egzonu 7 (V281L) unutar skupine zdravih ispitanika pozitivnih za jedan ili kombinaciju alela (A*33:01, B*14:02, DRB1*01:02, DRB1*03:01) (N=177), kao i skupine ispitanika negativnih za navedene alele HLA (N=40). Svim ispitanicima određeno je prisustvo/odsustvo mutacije CYP21A2 Ex7 V281L lančanom reakcijom polimerazom i početnicama specifičnim za zdravi/mutirani alel. Mutacija gena CYP21A2 Ex7 V281L pokazala je statistički vrlo značajnu povezanost (p<0,0001) s alelom B*14:02, haplotipom HLA-B*14:02-DRB1*01:02, haplotipom HLAA* 33:01-B*14:02 i haplotipom HLA-A*33:01-B*14:02-DRB1*01:02. Mutacija CYP21A2 Ex7 V281L nije statistički značajno češće prisutna među ispitanicima nositeljima haplotipa HLA-B*14:02-DRB1*03:01 (p>0,05), dok ispitanici pozitivni za haplotip HLA-A*33:01- B*14:02-DRB1*03:01 imaju statistički značajno veću šansu da će nositi i praćenu mutaciju (p=0,0040).
Abstract (english)
This study represents the frequency analysis of the CYP21A2 gene mutation located in the exon 7 (V281L). Analysis was preformed in the group of healthy subjects who carried one or a combination of the following alleles: A*33:01, B*14:02, DRB1*01:02, DRB1*03:01 (N=177), as well as within a group of subjects who did not carry any of the above mentioned HLA alleles (N=40). The presence/absence of the CYP21A2 Ex7 V281L mutation was determined for all subjects using the polymerase chain reaction and primers specific for wild type/mutant allele. The CYP21A2 gene Ex7 V281L mutation has shown very significant association (p<0,0001) with B*14:02 allele, HLA-B*14:02-DRB1*01:02 haplotype, HLAA* 33:01-B*14:02 haplotype and HLA-A*33:01-B*14:02-DRB1*01:02 haplotype. The CYP21A2 gene Ex7 V281L mutation was not significantly more present among subjects who carried HLA-B*14:02-DRB1*03:01 haplotype (p>0,05), while the subjects positive for the HLA-A*33:01-B*14:02-DRB1*03:01 haplotype had a significantly higher probability of carrying the analysed mutation as well (p=0,0040).
Keywords
Keywords (english)
Languagecroatian
URN:NBNurn:nbn:hr:217:535534
Study programmeTitle: Experimental Biology
Study programme type: university
Study level: graduate
Academic / professional title: magistar/magistra eksperimentalne biologije (magistar/magistra eksperimentalne biologije)
Type of resourceText
File originBorn digital
Access conditionsOpen access
Terms of useLicence In copyright icon
Created on2017-04-24 09:44:15