Document Details

Document Type : Thesis 
Document Title :
Identification of Human Leukocyte Antigen (HLA) patterns in beta-thalassemia patients and their relevance to the mutational spectrum of the Human Beta-Globin Gene (HBB)
التعرف على أنماط مستضد الكريات البيضاء البشرية في مرضى بيتا ثلاسيميا وعلاقة التغيير الطفري في بيتا جلوبين جين
 
Subject : Faculty of Applied Medical Sciences 
Document Language : Arabic 
Abstract : Human leukocyte antigen (HLA) is the most polymorphic genes in human. It has an important role in organs transplantation, immune response and also has a relation to several autoimmune and inflammatory diseases. Genotyping of the HLA genes is important in both clinical and research settings in order to understand the mechanism of HLA-associated diseases as well as organ transplantation. Beta Thalassemia is considered as one of the most common inherited blood disorders worldwide as well as the Kingdom of Saudi Arabia. Molecular studies showed more than 200 different mutations around the world affecting the HBB gene thus causing the disease with the IVS-1-5 mutation - substitution of G by C at position 5 of the IVS-I of the HBB gene - is considered the most common mutation in the KSA. HLA matching in beta thalassemia patients can support therapeutic interventions through hematopoietic stem cell transplantation (HSCT). It is estimated that only 30% of patients can find an HLA identical donor from their families. Therefore, It is necessary in certain occasions to be able to find HLA-matched stem cell donors from outside the patients’ families. The aim of this study is to investigate the HLA area in beta- thalassemia patients who carry the IVS-1-5 mutation and in healthy volunteers. We investigated the genetic polymorphism of sixteen Short Tandem Repeat (STR) loci (D6S291, TAP1, D6S2880, D6S1014, D6S2973, MICA, MOGc, MIB, MIB outer, D6S2674, D6S2959, D6S2908, Ring3CA, D6S2812, D6S248 and D6S2707) in 15 beta-thalassemia patients samples who carry the (IVS-1-5) mutation and 15 healthy volunteers samples using a fluorescent-labelled singleplex-PCR STR typing method. The result showed wide variation in alleles and high level of genetic polymorphisms. In addition, we found a high level of homozygosity in fifteen patient samples at three STR loci; Ring3CA , D6S2812 and D6S248 where this homozygosity is significantly associated with beta thalassemia IVS-I-5 mutation (p-value <0.05,<0.001 and <0.001 respectively). We conclude that HLA matching using the fluorescent-labelled singleplex-PCR STR typing method and the 16 STR loci provides a useful technique supporting HSCT as well as raising questions about the potential association between homozygosity at certain STR markers and particular HBB mutations. 
Supervisor : Prof. Adel Muhammed Abuzenadah 
Thesis Type : Master Thesis 
Publishing Year : 1438 AH
2017 AD 
Co-Supervisor : Dr. Aisha Hassan Elaimi 
Added Date : Wednesday, February 15, 2017 

Researchers

Researcher Name (Arabic)Researcher Name (English)Researcher TypeDr GradeEmail
عبدالله حمزه الرداديAlraddadi, Abdullah HamzaResearcherMaster 

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