3. Name the syndrome indicated in the karyotype below. 第 38 銀 18 11 12 身 88 1? 10 88 19 21

Match the following terms with their correct definitions. A change in a gene that causes it to produce no protein. A loss-of-funtion in one allele that is uominant because the wild type allele alone does not produce enough protein to serve its typical role. 1. Loss-of-function mutation 2. Null mutation 3. Gain-of-function mutation A change in a gene that causes it to produce less protein or protein that is not able to serve its typical role. 4. Haploinsufficiency A change in a gene that causes it to produce increased protein or protein that takes on a new role.

5. A woman with type AB blood marries a man with type homozygous type B blood. What are the phenotype and genotype ratios of the offspring? 6. Hemophilia is a sex linked recessive trait. If a carrier woman marries a normal man. The couple gives birth to a boy. What are the chances that this child will have hemophilia? Make sure use XX or XY here) 7. The height of a certain plant is a result of polygenic inheritance involving two pairs of genes. Draw a Punnett square to show the result of a cross between a tall (AABB) plant and a short (aabbi. What is the phenotype ratio? 8. What is a mutation? 9. What is sickle cell anemia? 10. What is hemophilia? 11. What is a pedigree? 12. Draw a pedigree to represent the following. Shaded symbols should represent individuals with hemophilia: A man with hemophilia marries a normal woman. They have 3 children, two normal boys and a girl who is a carrier. The girl marries a normal man and they have two boys and two girls. One of the girls is a carrier…

8.     Huntington’s disease is a degenerative disease of the nervous system that strikes in middle age. The allele that causes the disease (H) is dominant to the allele that results in the normal condition (h). Answer the following questions about the inheritance of this disease. A.     What is the genotype of a man who is normal but whose father had Huntington’s disease?   B.     What is the genotype of a woman who has Huntington’s disease if both of her parents had Huntington’s disease?   C.     If a man who is heterozygous for Huntington’s disease marries a woman who is normal, what would you expect for the genotypes and phenotypes of their children? D.     If a normal man marries a woman who is homozygous for Huntington’s disease, what do you expect for the genotypes and phenotypes of their children?