Are submicroscopic chromosomal inversions predisposing factors for the t(9;22)(q34;q11.2) translocation in chronic myeloid leukemia?

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作者
Juan Ramón González García
Martín Daniel Domínguez Cruz
César Borjas Gutiérrez
机构
[1] CIBO-Instituto Mexicano del Seguro Social,División de Genética
[2] CUCS-Universidad de Guadalajara,Doctorado en Genetica Humana
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Chronic myeloid leukemia; t(9;22) translocation; Submicroscopic inversion; Duplicons; Non-allelic homologous recombination;
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摘要
A complex chromosomal rearrangement observed in a patient with chronic myeloid leukemia was explained as the consequence of a multistep process. The explanation involved an initial t(9;22) translocation with breakpoints distant from the BCR and ABL1 genes followed by genomic deletions that produced the BCR-ABL1 hybrid gene. We present an alternative model that fits the origin of the patient’s rearrangement better. The present model links submicroscopic inversions with the occurrence of the t(9;22) translocation and opens a new approach on the research on the disease.
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