Genotyping and analysis of the HLA region of whole genome sequencing data from two Hungarian families affected with coeliac disease
dc.contributor.advisor | Barta, Endre | |
dc.contributor.advisordept | Általános Orvostudományi Kar::Biokémiai és Molekuláris Biológiai Intézet | |
dc.contributor.author | Valerio Aguilar, Kenneth Alejandro | |
dc.contributor.department | DE--Általános Orvostudományi Kar | |
dc.contributor.opponent | Polgár , Zsuzsanna | |
dc.contributor.opponentdept | Általános Orvostudományi Kar::Orvosi Vegytani Intézet | |
dc.date.accessioned | 2024-06-03T12:11:36Z | |
dc.date.available | 2024-06-03T12:11:36Z | |
dc.date.created | 2024 | |
dc.description.abstract | In this study, we used whole genome sequencing data from two Hungarian families affected by CD to analyze the HLA-related genetic mechanisms behind it. We used bash scripting to run an open-source genotyping algorithm to predict the alleles of the different HLA genetic regions. After this, we extracted, analyzed, and compared the haplotype frequencies in CD-affected individuals against non-affected ones. We found that, in line with previous findings, the HLADQ2.5 haplotype was predominant in our study group, and there was almost no evidence of the HLADQ8 haplotype. Using descriptive statistics methods, we found evidence of a strong linkage disequilibrium factor in our population. Affected individuals might be carrying the ancestral haplotype AH 8.1, composed of HLA-A1, Cw7, B8, DRB1*0301, DRB3*0101, DQA1*0501, and DQB1*0201 alleles. | |
dc.description.course | molekuláris biológia | |
dc.description.courselang | angol | |
dc.description.coursespec | Biokémia-genomika | |
dc.description.degree | MSc/MA | |
dc.format.extent | 39 | |
dc.identifier.uri | https://hdl.handle.net/2437/370817 | |
dc.language.iso | en | |
dc.rights.access | Hozzáférhető a 2022 decemberi felsőoktatási törvénymódosítás értelmében. | |
dc.subject | Coeliac Disease | |
dc.subject | Genotyping | |
dc.subject | Human Leukocyte Antigen | |
dc.subject.dspace | Biology::Human Genetics | |
dc.title | Genotyping and analysis of the HLA region of whole genome sequencing data from two Hungarian families affected with coeliac disease |
Fájlok
Eredeti köteg (ORIGINAL bundle)
1 - 1 (Összesen 1)
Nem elérhető
- Név:
- Thesis_KennethV_Corrected.pdf
- Méret:
- 1.41 MB
- Formátum:
- Adobe Portable Document Format
- Leírás:
Engedélyek köteg
1 - 1 (Összesen 1)
Nem elérhető
- Név:
- license.txt
- Méret:
- 1.94 KB
- Formátum:
- Item-specific license agreed upon to submission
- Leírás: