Chapter 25: Problem 24
Describe three types of genetic changes that commonly convert a proto-oncogene to an oncogene. Explain how the genetic changes are expected to alter the activity of the gene product.
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Chapter 25: Problem 24
Describe three types of genetic changes that commonly convert a proto-oncogene to an oncogene. Explain how the genetic changes are expected to alter the activity of the gene product.
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Achondroplasia is a rare form of dwarfism caused by an autosomal dominant mutation that affects the gene that encodes a fibroblast growth factor receptor. Among 1,422,000 live births, the number of babies born with achondroplasia was 31. Among those 31 babies, 18 of them had one parent with achondroplasia. The remaining babies had two unaffected parents. How do you explain those 13 babies, assuming that the mutant allele has \(100 \%\) penetrance? What are the odds that these 13 individuals will pass this mutant gene to their offspring?
With regard to pedigree analysis, make a list of observations that distinguish recessive, dominant, and \(\mathrm{X}\)-linked patterns of inheritance.
Many genetic disorders exhibit locus heterogeneity. Define and give two examples of locus heterogeneity. How does locus heterogeneity confound a pedigree analysis?
We often speak of diseases such as phenylketonuria (PKU) and achondroplasia as having a genetic basis. Explain whether the following statements are accurate with regard to the genetic basis of any human disease (not just PKU and achondroplasia). A. An individual must inherit two copies of a mutant allele to have disease symptoms. B. A genetic predisposition means that an individual has inherited one or more alleles that make it more likely that she or he will develop disease symptoms than other individuals in a population will. C. A genetic predisposition to develop a disease may be passed from parents to offspring. D. The genetic basis for a disease is always more important than the environment.
Like Hurler syndrome, Fabry disease involves an abnormal accumulation of substances within lysosomes. However, the lysosomes of individuals with Fabry disease show an abnormal accumulation of lipids. The defective enzyme is \(\alpha\)-galactosidase \(\mathrm{A}\), which is a lysosomal enzyme that functions in lipid metabolism. The defect causes cell damage, especially to the kidneys, heart, and eyes. The gene that encodes \(\alpha\)-galactosidase \(A\) is found on the \(X\) chromosome. Let's suppose a phenotypically unaffected couple produces two sons with Fabry disease and one phenotypically unaffected daughter. What is the probability that the daughter will have an affected son?
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