Chromosomal rearrangements

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  • Chapter 13 - Chromosomal rearrangements and changes in chromosome number. This chapter presents the following content: Rearrangements of DNA sequences, transposable genetic elements, rearrangements and evolution: a speculative comprehensive example, changes in chromosome number, emergent technologies: beyond the karyotype.

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  • Applications of FISH The majority of FISH applications involve hybridization of one or two probes of interest as an adjunctive procedure to conventional chromosomal banding techniques. In this regard, FISH can be utilized to identify specific chromosomes, characterize de novo duplications or deletions, and clarify subtle chromosomal rearrangements. Its greatest utilization, however, is in the detection of microdeletions (see below). Though conventional cytogenetic studies can detect some microdeletions, initial detection and/or confirmation with FISH is essential.

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  • Tuyển tập các báo cáo nghiên cứu về sinh học được đăng trên tạp chí sinh học thế giới đề tài: Chromosomal rearrangements in cattle and pigs revealed by chromosome microdissection and chromosome painting

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  • Uncovering Recurrent Submicroscopic Rearrangements As a Cause of Disease For five decades since Fred Sanger's (1) seminal discovery that proteins have a specific structure, since Linus Pauling's (2) discovery that hemoglobin from patients with sickle cell anemia is molecularly distinct, and since Watson and Crick's (3) elucidation of the chemical basis of heredity, the molecular basis of disease has been addressed in the context of how mutations affect the structure, function, or regulation of a gene or its protein product.

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  • Các đột biến cấu trúc NST hay còn gọi là sai hình NST (chromosome structure) hay cấu trúc lại NST (chromosome rearrangement) được phát hiện bằng phương pháp tế bào học. Các đột biến loại này thực chất là sắp xếp lại các gen hoặc giảm hay tăng liều lượng gen.

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  • Các dạng đột biến cấu trúc nhiễm sắc thể và cơ chế phát sinh Các đột biến cấu trúc NST hay còn gọi là sai hình NST (chromosome structure) hay cấu trúc lại NST (chromosome rearrangement) được phát hiện bằng phương pháp tế bào học.

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  • Mechanisms of Oncogene Activation Mechanisms that upregulate (or activate) cellular oncogenes fall into three broad categories: point mutation, DNA amplification, and chromosomal rearrangement. Point Mutation Point mutation is a common mechanism of oncogene activation. For example, mutations in one of the RAS genes (HRAS, KRAS, or NRAS) are present in up to 85% of pancreatic cancers and 50% of colon cancers but are relatively uncommon in other cancer types. Remarkably—and in contrast to the diversity of mutations found in tumor-suppressor genes (Fig.

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  • Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: High-throughput analysis of chromosome translocations and other genome rearrangements in epithelial cancers

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  • The increasing number of chromosomal rearrangements involving the humanMLLgene, in combination with differences in clinical behavior and outcome for MLL-rearranged leukemia patients, makes it necessary to reflect on the cancer mechanism and to discuss potential therapeutic strate-gies. To date, 64 different translocations have been identified at the molecular level.

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  • Chromosomal rearrangements apparently account for the presence of a pri-mate-specific gene (protease serine 3) in chromosome 9. This gene encodes, as the result of alternative splicing, both mesotrypsinogen and trypsino-gen 4. Whereas mesotrypsinogen is known to be a pancreatic protease, neither the chemical nature nor biological function of trypsinogen 4 has been explored previously.

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