Chapter 12 Study Guide:
Inheritance Patterns & Human Genetics
1. What letters represent a male?
2. What letters represent a female?
3. The XX and XY chromosomes are called ______chromosomes.
4. The first 22 pairs of chromosomes are called ______.
5. What is a mutation?
6. There are two main types of mutations? What are they?
7. What kind of mutation is caused by a piece of DNA breaking away from its chromosome and becoming attached to a nonhomologous chromosome?
8. What kind of mutation is caused by gametes having too many or too few copies of a chromosome?
9. List the 4 types of gene mutations.
10. List the 4 types of chromosome mutations.
11. If a gene is changed due to damage or incorrect copying, what can that cause?
12. Hemophilia is an X-linked trait. Why is it that females rarely get that disease?
13. Can the effects of a mutation be helpful, harmful, or neutral (have no effect)?
14. How many chromosomes do people with Down syndrome have?
15. What is a pedigree?
16. Blood type in humans is controlled by multiple alleles. Create a punnett square of a person who inherited an A allele from one parent and O allele from the other. What would the blood type of that person be? SHOW YOUR WORK!
17. What kinds of things (tests) can be done to determine the risks of passing on a genetic disorder to one’s children?
18. What is genetic counseling?
19. While studying several generations of a particular family, a geneticist observed that a certain disease was found equally in males and females and that all children who had the disease had parents who also had the disease. Create a punnett square to determine if the disease is sex-linked recessive, sex-linked dominant, autosomal recessive or autosomal dominant.
20. If a characteristic is sex-linked, does it occur more commonly in males, females or both?
21. If the allele for colorblindness is located on the X chromosome, we call this a ______trait.
22. Which parent determines the sex of the baby? Explain why.
23. Thomas Hunt Morgan worked with Drosophila (fruit-flies). Working with them, what did he discover?
24. Set up a punnett square between a homozygous white-eyed female fruit fly (Drosophila) and a red-eyed male fruit fly. What percent of the female offspring would have white eyes? What percent of the male offspring would have white eyes?
25. In humans, cystic fibrosis is caused by a recessive gene that is NOT sex-linked. A man and woman (neither have cystic fibrosis) have two children with the disease. What is the probability that their third child will have the disease? SHOW YOUR WORK! (Cc x Cc).
26. What is a karyotype? Compare a normal female and male karyotype.
27. Create a pedigree with the following information. Two normal parents have three children. The first daughter is normal, the second son is normal, and the third daughter has sickle cell anemia.
28. Analyze the pedigree