What is a gene that is mutated causing the disorder? (15%) How was the locus mapped? What are the molecular methods used to identify the mutant allele(s) associated with the disease? What are the changes in DNA sequences of the gene? Give up to three examples. What could be predicted from the molecular lesions in the mutant alleles? 2. What is known about the gene (function)? (25%) For some gene products, their functions are learned through investigations including biochemical and/or biophysical studies; For other gene products, their structural and functional properties, such as a recognizable domain in a protein, are predicted from sequence analysis. 3. In which model organism(s) was/is the disease studied? (35%) What types of genetic experiments were performed, such as forward/reverse genetics? Are the results obtained from studies in the model system verified in humans? . .
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