Question

Answer in detail please, high percentage of my grade

1) Discuss how fusion genes can originate from chromosomal breaks, and how these fusion genes can lead to cancer

b) Within your answer, please discuss in detail the genotype, and how this leads to the phenotype of at least one type of cancer

c) discuss the genetic screening techniques that can be used to assess this disorder, and any recent developments in this area

d) discuss how a detailed understanding of the genotype could lead to novel therapeutics for cancers originating from fusion genes

Answer 1

1. The chromosomal breaks may lead to the rearrangement of the chromosomes quite different from the normal arrangement which causes two unrelated genes to fuse giving rise to a fusion gene. The proteins translated from these genes could have specific activity that may transform the normal cells into carcinomic cells.

2. The Philadelphia chromosome, which has a fusion gene (N-terminus of BCR and tyrosine kinase domain of ABL) results in the production of a chimeric protein which has tyrosine kinase activity. This transforms a benign cell into a malignant one. This fusion gene cause Leukemia.

3. The DNA sequencing techniques can be used to detect these gene fusions across the chromosomes. The next generation sequencing technique is most effective for their detection. The sequencing of the cell's transcriptome can also be done for their detection.

4. The knowledge and understanding of the detailed genotype of a human wll help in the detection and novel therapeutic for cancers originating from the fusion genes. Measures could be taken to rearrange the fused genes to their normal positions.