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Identifier 000441596
Title Μελέτη των πολυμορφισμών των γονιδίων IKZF1 (rs4132601) και CDKN2A (rs3731217) στην Οξεία Λεμφοβλαστική Λευχαιμία παιδιών και εφήβων
Alternative Title IKZF1 (rs4132601) and CDKN2A (rs3731217) polymorphisms in children and adolescents with Acute Lymphoblastic Leukaemia
Author Κατσαρού, Σπυριδούλα-Διονυσία
Thesis advisor Στειακάκη, Ευτυχία
Reviewer Γουλιέλμος, Γεώργιος
Ποντίκογλου, Χαράλαμπος
Abstract Cancer is the second leading cause of death in childhood and the leading cause of disease-related mortality. Acute lymphoblastic leukaemia (ALL) is the most prevalent paediatric malignancy, accounting for 75% of new leukaemia diagnoses per year. The disease arises from the disruption of normal cell growth and differentiation of the haematopoietic stem cell. The leukaemic clone that is created is characterised by self-renewal, inability to develop into more mature forms of white blood cells and thus, lymphoblasts accumulate in the bone marrow and eventually suppress normal haematopoiesis. Until recently, cytogenetic techniques for detecting chromosomal abnormalities were used to diagnose and classify the disease. Over the last decades, numerous studies have provided information on the pathogenesis of ALL, which arises from a series of genetic alterations that include various cytogenetic abberations, some of which have prognostic value and are associated with response to therapy. However, over the past years the importance of genetic polymorphisms in leukaemogenesis has been highlighted. Several recent studies have identified inherited polymorphisms that are overrepresented in ALL patients compared with non-ALL controls, including SNPs in IKZF1 and CDKN2A, among others. The IKZF1 gene encodes IKAROS protein, an essential transcription factor in haematopoiesis. It is a key regulator of lymphoid differentiation and has been established as one of the most clinically relevant tumour suppression genes in ALL. The role of IKAROS has been extensively studied revealing its pathogenetic and clinical impact on various human diseases. The CDKN2A gene is a recognised tumour suppressor and encodes two distinct proteins, p16INK4a and p14ARF, that induce cell cycle arrest. In particular, p14ARF, which is in the contex of this study, is a key regulator of p53. Many researchers have investigated the possible association of the genetic polymorphisms in these genes with the occurrence of ALL in both children and adults. The present research was in the same context and studied the incidence of Hematology - Oncology of Childhood and Αdolescence School of Medicine – University of Crete 4 rs4132601 polymorphism in the IKZF1 gene and rs3731217 in the CDKN2A gene in children and adolescents with ALL compared to healthy individuals. The purpose of the research was to investigate the possible association of the genotypes or alleles with the occurrence of the disease. The study was comprised of 50 children and adolescents with ALL and 91 healthy controls. Genomic DNA was isolated from peripheral blood samples of both groups and both genetic loci were amplified using the Polymerase Chain Reaction (PCR) method. The PCR products were then incubated with the restriction enzyme appropriate for each genetic polymorphism and electrophorated on agarose gel in order to detect the genotype of each individual. Statistical analysis revealed no correlation of any genotype or allele for either of the two polymorphisms with the occurance of the disease. The role of these polymorphisms in ALL is still under investigation, as the data are contradictory in several cases. Although most data show an association between rs4132601 polymorphism in the IKZF1 gene and rs3731217 in the CDKN2A gene with an increased risk of developing ALL in childhood, there are several studies supporting the opposite. Therefore, it would be of great interest to further study these specific SNPs, as well as other genetic polymorphisms, with the ultimate goal of clarifying their role in the development of Acute Lymphoblastic Leukemia in children and adolescents.
Language Greek
Subject Πολυμορφισμοί
Issue date 2021-07-29
Collection   School/Department--School of Medicine--Department of Medicine--Post-graduate theses
  Type of Work--Post-graduate theses
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