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Study Questions – Chapter 1 1. Which of Mendel’s findings helped to rule out the vital spark theory of inheritance? 2. Which of Mendel’s findings helped to rule out the homunculus theory of inheritance? 3. What are the standard symbols used to represent a male and a female in a pedigree drawing? 4. In a standard pedigree drawing, how is a deceased individual marked? 5. What is a heterozygote? 6. What is a homozygote? 7. What is the difference between genotype and phenotype, and how are they related? 8. How many alleles of a gene come from each parent, and how many are passed along to the offspring? 9. Define the term allele. 10. What is a dominant allele? 11. What is a recessive allele? 12. What are the modes of inheritance of deafness? 13. Could albinism be considered a syndrome? Why or why not? 14. What is the difference between monozygotic twins and fraternal twins? 15. What is pleiotropy and why can a defect in a single gene have pleiotropic effects? 16. Kate and Dan, two individuals who do not have cystic fibrosis, are both carriers of a defect in the cystic fibrosis gene and decide to have children together. Draw a Punnett square that shows the genotypes of the sperm and eggs they can produce and the genotypes that we would predict for their children. What fraction of their children will be carriers and how many will not have cystic fibrosis? 17. Is the proband of a family always someone with the trait? Explain. 18. What do identical twins and fraternal twins have in common that is important to researchers doing twin studies? 19. Draw a three generation pedigree showing inheritance of a dominant form of epilepsy where the grandfather is affected, the grandmother is deceased, and a granddaughter is the proband. Use standard pedigree symbols. 20. What determines whether a genetic trait is a genetic disease?