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Analysis of somatic hypermutations of immunoglobulin gene rearrangements in childhood acute lymphoblastic leukemia
Authors:Braoudaki M  Katsibardi K  Giudicelli V  Karamolegou K  Papathanassiou Ch  Lefranc M-P  Tzortzatou-Stathopoulou F
Affiliation:University Research Institute for the Study and Treatment of Childhood Genetic and Malignant Diseases, Hematology/Oncology Unit, First Department of Pediatrics, Aghia Sophia Children's Hospital, University of Athens, Athens, Greece. mbraouda@yahoo.co.uk
Abstract:The current study investigated the presence, frequency, and status of somatic hypermutations as well as their role in children with B lineage ALL. The obtained sequences were analyzed using IMGT/V-QUEST. Totally, 150 IGH sequences were evaluated; 139 from the 111 patients at the time of diagnosis and 11 from 8/111 patients at the time of relapse. The findings of the current report revealed the presence of somatically mutated V genes in childhood B lineage ALL. A higher frequency of somatic hypermutations was noted in unproductive rearrangements and was generally attributed to nucleotide mutation type, region, and IGHV gene subgroup biases.
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