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báo cáo khoa học: " Detection of DNA fusion junctions for BCR-ABL translocations by Anchored ChromPET"

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Detection of DNA fusion junctions for BCR-ABL translocations by Anchored ChromPET | Shibata et al. Genome Medicine 2010 2 70 http genomemedicine.eom content 2 9 70 Genome Medicine METHOD Open Access Detection of DNA fusion junctions for BCR-ABL translocations by Anchored ChromPET Yoshiyuki Shibata Ankit Malhotra1 Anindya Dutta Abstract Anchored ChromPET a technique to capture and interrogate targeted sequences in the genome has been developed to identify chromosomal aberrations and define breakpoints. Using this method we could define the BCR-ABL1 translocation DNA breakpoint to a base-pair resolution in Philadelphia chromosome-positive samples. This DNA-based method is highly sensitive and can detect the fusion junction using samples from which it is hard to obtain RNA or cells where the RNA expression has been silenced. Background Chromosomal translocations play a major role in several genetic diseases. Translocations between genes have the potential to constitutively express or repress genes and hence lead to different diseases. The Philadelphia chromosome Ph is a prime example of such a translocation where a fusion gene is constitutively expressed and leads to a particular class of leukemia. There are other translocations that have been implicated in cancers and other genetic diseases and more are being discovered every day. A method that can quickly and robustly characterize specific translocations and produce DNA-based diseasespecific biomarkers will have both diagnostic and prognostic applications. A method that is not dependent on the growth of cells in culture will bring the power of cytogenetics to many more cancers. The incidence of chronic myeloid leukemia CML is 1 to 2 per 100 000 and the disease constitutes 15 to 20 of adult leukemias. CML is characterized by the Ph resulting from the t 9 22 q34 q11 balanced reciprocal translocation. The translocation generates the BCR-ABL1 fusion protein with constitutive kinase activity and oncogenic activity. The breakpoints in the ABL1 gene lie in a 90-kb-long intron 1 upstream of the ABL1 .