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Mutаtiоns, mutаtiоns, mutаtiоns! For each example below determine whether you think it best represents a loss of function or gain of function allele A) Achondroplasia is an autosomal dominant disorder that results in dwarfism. The mutation is in the Fibroblast Growth Factor Receptor 3. 98% of all affected individuals have the same mutation: a G-->A transversion that results in the substitution of an arginine for a glycine. Studies in mice and cell culture indicate that the mutant form of the protein is hyperactive. B) Friedrich’s Ataxia is an autosomal recessive disorder that results in degeneration of neurons in the spinal cord. The mutant FXN gene contains a triplet repeat expansion in an intron and does not result in the formation of abnormal proteins. Instead the mutant allele results in the formation of heterochromatin at the locus. C) Spinal muscular atrophy (SMA) is an autosomal recessive disorder characterized by degeneration of motor neurons causing muscular wasting. The disease results from a mutation in the SMN2 gene, a CàT transition that does not change the amino acid sequence of the gene. However, individuals with two copies of the mutant allele have a different sized mRNA than individuals with the wild type alleles.
A pаtient with right-sided heаrt fаilure presents with distended neck veins while sitting upright. This finding is best described as: