Remember: Not all diseases are inherited!

1. Warm up: What is more commonly related with a deadly, inherited disease; a dominant allele or a recessive allele? Remember: Not all diseases are inherited!

2. 33. Like hitchhiker’s thumb, widow’s peak is a recessive trait. Which genotype below produces a phenotype with a widow’s peak, like his.↓ • W • w • WW • Ww • ww

3. 34/35. Attached ear lobes are recessive compared to detached ear lobes. If a man & woman who both have detached ear lobes & also both had one parent with attached earlobes, then what genotype is possible for their offspring? • EE • Ee • ee • None of these are possible • All of these are possible

4. 39/40 If having dimples is a dominant trait, then what is the genotype of a person with a “no dimple” phenotype? • dd • Dd • Dd • d • D

5. 41 Which person below is a healthy carrier of the sex linked disorder hemophilia? (called Queen Victoria’sdisease because inbreeding in her family resultedin high rates of inheriting the disease) • XhXh • XhY • XHXh • XHY • XHYh

6. 51—53 This punnett square shows two columns for alleles for each parent because each parent donates a gamete that allows him/her to pass _____________ to each F1 offspring. Each square represents a different combination of alleles possible among offspring of the mated couple. • 1 allele for each gene • 2 alleles for each gene

7. Use the information to answer questions 1 , 2 , 3 , 4. Sickle cell Disease Sickle cell disease is a group of inherited disorders in which deoxygenated red blood cells become distorted and take on a shape like a sickle. There are two common alleles for this gene. One causes normally shaped red blood cells and the other allele causes the red blood cells to have a sickle shape. The sickled cells can lodge in the smallest blood vessels and reduce the circulation of blood to tissues. The sickle cell allele is most Common in areas where the disease malaria is a significant problem, and among people whose ancestors are from those areas. Evidence shows that having just one sickle cell allele makes a person resistant to malaria. This genetic condition is a recessive trait. When an individual has only one allele for the sickle cell trait, the person is a carrier. The pedigree below represents a family in which some members have the sickle cell allele. index

8. 17 Acting like machines, molecules called _________ conduct the work of our 100 trillion cells. Over 100,000 different types of these are found in the human body. Alleles code for these molecules. • chromosomes • lipids • carbohydrates • proteins

9. 10 Errors in the nucleotide sequence of genes are called _______________. These errors can code faulty, misshapen proteins that can not perform their normal functions and cause inherited genetic disorders. • Miscodes • Alterations • Mutations

10. 10 part 2 Sickle cell anemia is due to mutations in the hemoglobin protein coding gene. A child who inherits faulty genes (alleles) from (?one/both?) ______________ parents has blood cells that have the wrong shape and deliver oxygen with low efficiency. • one • both • neither • can’t tell

11. 7. The mutation for cataracts (c) occurs on a gene represented by the letter E. Owls that are homozygous for the mutation (EcEc) exhibit cataracts*. Owls that are homozygous for normal eyes are EE and owls that are carriers of the mutation but do not exhibit cataracts are EEc. What percentage of the offspring in a cross between parents with the genotypes EE and EcEc will exhibit cataracts? * We used C where the question uses E and c where the question uses Ec . • A. 0% • B. 25% • C. 50% • D. 75%

12. 8. All cataracts were originally thought to be acquired; however, recent research indicates that some cataracts are genetic in nature. What type of study would be most likely to lend support to the claim that cataracts can be inherited? • A. analysis of cataract thickness in several species • B. studying age-related onset of cataracts within a species • C. linkage studies on DNA from families with a history of cataracts (comparing genes of siblings with and without cataracts) • D. comparing characteristics of cataracts caused by specific diseases .

13. 9. Color blindness is a recessive sex-linked trait that is carried on the X chromosome. If a boy is born color-blind, what would have to be true? • A. His father had normal vision. • B. His grandmother was colorblind. • C. His mother carried at least one gene for color blindness. • D. His grandfather passed on the color-blind trait to his father.

14. 1. In the genetic pedigree, person U and her husband are considering having another child.What is the % chance that this child will develop sickle cell disease, a recessive disorder? • A. 25% • B. 50% • C. 75% • D. 100%

15. 2. Draw a Punnett square or comparable diagram for the couple in the first generation of the pedigree. Use B to represent the allele for normal red blood cells and b to represent the allele forsickle cell disease. How do the couple’s actual children compare to the expected results shown in your Punnett square? Make sure you answer both parts of the question. (4 points) Write the answer on separate paper.

16. Explanation • Bb X BB B b • B BB Bb • B BB Bb • 2BB, 2Bb • This predicts that their children will all have normal blood, but that half of the children will carry the disease. • The true phenotypic ratio of the couple’s offspring (100% healthy matches the prediction), and the genotypic ratio (3/6 carriers, 3/6 BB) matches the 2BB: 2Bb ratio, too

17. Reread this paragraph for question 3 (on next slide). Sickle cell Disease Sickle cell disease is a group of inherited disorders in which deoxygenated red blood cells become distorted and take on a shape like a sickle. There are two common alleles for this gene. One causes normally shaped red blood cells and the other allele causes the red blood cells to have a sickle shape. The sickled cells can lodge in the smallest blood vessels and reduce the circulation of blood to tissues. The sickle cell allele is most Common in areas where the disease malaria is a significant problem, and among people whose ancestors are from those areas. Evidence shows that having just one sickle cell allele makes a person resistant to malaria. This genetic condition is a recessive trait. When an individual has only one allele for the sickle cell trait, the person is a carrier. The pedigree below represents a family in which some members have the sickle cell allele. index

18. 3. Although sickle cell disease has negative effects on those who suffer from it, the allele is widespread in many parts of the world. This is because in areas where malaria is a significant danger, the sickle cellallele • A. ceases to cause symptoms. • B. attacks the parasite that causes malaria. • C. spreads rapidly in people weakened by malaria. • D. conveys a health advantage to those who carry the allele.

19. 4. Which person on the pedigree could not pass the allele for sickle cell disease to his/her offspring? • A. V • B. X • C. Y • D. Z

20. Use the information to answer questions 5-8. Cataracts In 2004, wildlife rescuers found a great horned owl nearly dead from starvation. The owl’s eyes had formed cataracts, which cloud the natural lens and inhibit the eye’s ability to focus and form clear images. Cataracts can be inherited or acquired as a result of aging, disease and/or use of certain medications. Without clear vision, the owl, named Minerva, had been unable to hunt. Minerva was taken to the Veterinary School at the University of Wisconsin, Madison, after a local veterinarian confirmed the presence of cataracts. A pair of lenses specifically made for owls was implanted in Minerva’s eyes. After the surgery and a recovery period, Minerva was moved to a large, enclosed area where small rodents were released and her ability to hunt was to be evaluated. Scientists confirmed that, if she showed a clear ability to hunt, she would be released back into her natural habitat.

21. 5. Provide two reasons why the researchers’ actions in rescuing and operating on Minerva either were or were not ethical. Respond in the space provided in your Answer Document. (2 points) Write the answer on separate paper. index Back to paragraph Scoring Guidelines

22. examples • Some people think it’s unethical to cage wild animals • She might have been harmed more than the cataracts • She might not have recovered, then needed captive care all her life • Evolution prevents reproduction of unfit individuals, but in captivity she could breed. • She might feel pain due to the surgery

23. 1 DNA is found in the _____________ of eukaryotic cells. • Golgi apparatus • Cytoplasm • Nuclei • Ribosomes

24. 2 Twenty three sets of two ____________ contain the DNA of a human cell. • Histone proteins • Chromosomes • Organelles • Karyotypes

25. 9 Each gene has a particular location on one of the chromosomes; some of the genes on the X chromosome are shown In total, human chromosomes contain about __________ genes. • 23 • 46 • 23,000 • 100,000 • 3,000,000,000

26. 48—50 Mendel, the monk who discovered the rules of genetics, stated that 2 alleles code every trait, and that when an individual produces gametes, these alleles undergo random segregation into the gametes. Which of these genetic techniques is possible because of this rule? • DNA testing • Karyotype construction • Pedigree construction • Punnet Square construction

27. In number 11, do the Punnett square. Both parents had to be carriers to produce both affected and unaffected children for a recessive disorder.