Investigation of genetic variants in human immunodeficiency and an Australian non-Hodgkin lymphoma population
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Gabrielle Bradshaw Thesis
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Available under License Creative Commons Attribution Non-commercial No Derivatives 4.0. |
Description
This investigative study identified a missense moesin protein variant R171WMSN as the disease-causing mutation in an unknown primary immunodeficiency disorder (PID) through an exome sequencing (WES) approach. As PIDs can confer incidence of lymphoproliferative disorders, candidate genes and variants identified by WES were also investigated in another lymphoid abnormality, i.e. non-Hodgkin lymphoma (NHL), to determine association with NHL subtypes. In addition, variants located within microRNAs and their targets were investigated in association with NHL susceptibility in an Australian cohort of matched NHL cases and healthy controls where SNPs in MIR143 were shown to be significantly associated with NHL risk.
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| ID Code: | 180906 |
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| Item Type: | QUT Thesis (PhD) |
| Supervisor: | Griffiths, Lyn, Haupt, Larisa, & Sutherland, Heidi |
| Keywords: | Non-Hodgkin Lymphoma, Primary Immunodeficiency, Micro-RNA, Whole Exome Sequencing, CRISPR/Cas9, MSN, MIR143 |
| DOI: | 10.5204/thesis.eprints.180906 |
| Divisions: | Past > QUT Faculties & Divisions > Faculty of Health Current > Schools > School of Biomedical Sciences |
| Institution: | Queensland University of Technology |
| Deposited On: | 23 Apr 2020 02:33 |
| Last Modified: | 06 May 2020 04:22 |
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