Unit:
Κατεύθυνση Ιατρική Γενετική: Κλινική και Εργαστηριακή ΚατεύθυνσηLibrary of the School of Health Sciences
Author:
Papastathi Eftychiana
Supervisors info:
Μαρία Τζέτη, Αναπληρώτρια Καθηγήτρια, Ιατρική Σχολή, ΕΚΠΑ
Ιωάννα Traeger-Συνοδινού, Καθηγήτρια, Ιατρική Σχολή, ΕΚΠΑ
Ελένη Φρυσίρα, Καθηγήτρια, Ιατρική Σχολή, ΕΚΠΑ
Original Title:
Μοριακή διερεύνηση του γονιδίου IKZF1 σε παιδιατρικούς ασθενείς με οξεία Β λεμφοβλαστική λευχαιμία
Translated title:
Molecular study of the IKZF1 gene in pediatric patients with acute B lymphoblastic leukemia
Summary:
The acute lymphoblastic leukemia (ALL) is the most common cancer disease that someone encounters at the pediatric patients.
In previous research it was shown that it is rare to identify mutations in the ikaros gene (IKZF1) although deletions and point mutations are quite common in certain subtypes with bad prognosis. Those deletions often are a strong indication for relapse.
The ikaros gene has 8 exons of which only 7 (2-8) are coding. The product is a trascriptional factor that is involved in the maturation of the lymphoid lineage. The N-terminal Zn -finger domain is comprised of four Zn-fingers that are encoded by exons 4-6 that support the sequence specific DNA binding. On the other hand the C-terminal domain contains two Zn-fingers encoded by exon 8 and is required for oligomerization with self- and other family members of Ikaros.
A number of ikaros isoforms can be generated by differential splicing of exons. Mutations of ikaros gene can promote an increase to that differential splicing. These isoforms can act as negative dominant factors.
In this study, Sanger sequencing and Multiplex Ligation-dependent Probe Amplification (MLPA) were used in order to study the IKFZ1 in DNA samples of pediatric patients diagnosed with B-ALL.
Main subject category:
Health Sciences
Keywords:
Leukemia, ALL, IKZF1, Ikaros, Sequencing, MLPA
