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Explain why cures of single gene diseases are deficient.
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- For sickle cell anemia: a) Description of the phenotype b) Description of the genetics of transmission (Dominant or recessive, autosomal or X linked, penetrance, modifiers?) c) The molecular nature of the typical causative alleles (point mutation, insertion, deletion) and their affect on the corresponding protein. d) Current Treatments and Future Please answer all parts asapWhat are disease-causative mutations?"Genome-Wide Association Studies Identify Genome Variations That Contribute to Disease" Explain this ?
- Describe the medical applications of human gene therapy in the following diseases: Haemophilia, Cystic fibrosis, and Leber congenital amaurosis.Explain how PCR/OLA (polymerase chain reaction/oligonucleotide ligation assay) can be used in the diagnosis of sickle cell disorder . Would you recommend this method for routine diagnosis of sickle cell disorder? ExplainWhat genes are involved in Gaucher disease? Is the sequence of the gene known? Is genetic testing recommended for Gaucher disease? Give typing answer with explanation and conclusion