Study Guide: Chapter 2 s1

Name: ______Block: ____ Date: ____ Mrs. Stone Study Guide: Human Genetics Prentice Hall Biology

Directions: On a separate piece of paper, answer the following questions in complete sentences. Section 14-1 Human Heredity 1. Define karyotype. 2. Look at figure 14-1. What is the sex of the person that this karyotype was taken from? 3. How many sex chromosomes does a human cell have? How many autosomes? 4. Define a pedigree chart. 5. How is a male represented on a pedigree? A female? Someone who expresses a trait? Someone who does not? How is a marriage represented? 6. Define genotype and phenotype. Does a pedigree show genotype or phenotype? 7. In figure 14-3 what are the genotypes of both parents on the left in the second row? How do you know? 8. How do genetic counselors use pedigree charts? 9. How can genes be affected by the environment? 10. Using the pedigree in the “problem solving” section on page 343, determine if albinism is dominant or recessive. 11. What is the human genome? 12. Review the ABO groups listed in figure 14-4. If a woman who is heterozygous for A blood type marries a man with a AB blood type what is the likely hood of them having a baby with a B blood type? 13. Define cystic fibrosis, Tay-Sachs, Huntington’s, and sickle cell disease. Say whether they are caused by a dominant, recessive or co dominant allele. 14. Describe how the DNA sequence of the cystic fibrosis gene causes the disease. 15. Why don’t heterozygous individuals have complications from sickle cell anemia? 16. Why do so many African American’s carry the sickle cell allele? 17. What makes an allele dominant or recessive? Section 14-2 Human Chromosomes 18. How many bases of DNA does the human diploid cell have? 19. What is ALS? 20. List 3 gene mutations located on the X chromosome. 21. Which chromosome carries more genes, X or Y? 22. Define non-disjunction. 23. Define trisomy. 24. Define down syndrome. 25. Define Turner’s syndrome. 26. Define Klinefelther’s. Section 12-4 Mutations 27. What are 2 types of gene mutations? Define each. 28. Define chromosomal mutation. 29. List and describe the four types of chromosomal mutations in figure 12-21. 30. What makes mutations significant to a species? 31. What is one way a mutation could benefit an organism? 32. Define polyploidy.