Title | Povezanost mutacije (egzon 7- V281L) gena CYP21A2 s haplotipovima HLA u Hrvatskoj |
Author | Sabina Zvečić |
Mentor(s) | Zorana Grubić (thesis advisor) Ana Galov (thesis advisor)
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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). |
Keywords | HLA genes CYP21A2 gene B*14:02 HLA haplotypes population investigations |
Parallel title (English) | Association of EX 7 (V281L) mutation in CYP21A2 gene with HLA haplotypes in the Croatian population |
Committee Members | Ana Galov (committee chairperson) Renata Šoštarić (committee member) Martina Šeruga Musić (committee member) Ivančica Ternjej (committee member)
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Granter | University of Zagreb Faculty of Science |
Lower level organizational units | Department of Biology |
Place | Zagreb |
State | Croatia |
Scientific field, discipline, subdiscipline | NATURAL SCIENCES Biology
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Study programme type | university |
Study level | graduate |
Study programme | Experimental Biology |
Academic title abbreviation | mag. biol. exp. |
Genre | master's thesis |
Language | Croatian |
Defense date | 2015-09-18 |
Parallel 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). |
Parallel keywords (Croatian) | geni HLA gen CYP21A2 B*14:02 haplotipovi HLA populacijska istraživanja |
Resource type | text |
Access condition | Open access |
Terms of use |  |
URN:NBN | https://urn.nsk.hr/urn:nbn:hr:217:535534 |
Committer | Palma Dizdarević |