under positive selection due to "heterozygote advantage"for resistance to an nfectious d B thalassemia D. neurofibromatosis E. glucose-6-phosphate dehydrogenase deficiency B Terminology and Short answer questions(40%) 1. Ventricular Septal Defect 2 Cleft li 3. Benign and malignant Tumor 4. Prion disease 5.X Chromosome inactivation 6. Cystic fibrosis 7. Describe the principles of X-linked inheritance 8. Chromosome Nond isjunction C Long answer questions(60%) 1. Cancer is a genetic disease, or more precisely, cancer arises from malfunction of genes. List the three categories of cancer genes and explain how they cooperate to initiate and promote tumorigenesis 2. What are the major differences between birth defects and birth injuries? 3. Mr A, and his wife, has two children: a boy (5 years old)with Down syndrome and a girl (2 years old with PKU). Now they hope to have a healthy baby, please give them some suggestion. 4. Explain why Angelman syndrome and Prader-willi syndrome can result from both uniparental disomy and microdeletion 5. What is the difference between a loss of function mutation and a gain of function mutation? Give an example20. Which of the following diseases has not been proposed to be caused by mutations under positive selection due to “heterozygote advantage” for resistance to an infectious disease? A. sickle-cell anemia B. thalassemia C.cystic fibrosis D. neurofibromatosis E. glucose-6-phosphate dehydrogenase deficiency B. Terminology and Short answer questions(40%) 1.Ventricular Septal Defect 2.Cleft Lip 3.Benign and Malignant Tumor 4.Prion Disease 5.X Chromosome inactivation 6.Cystic fibrosis 7. Describe the principles of X-linked inheritance 8. Chromosome Nondisjunction C. Long answer questions(60%) 1. Cancer is a genetic disease, or more precisely, cancer arises from malfunction of genes. List the three categories of cancer genes and explain how they cooperate to initiate and promote tumorigenesis. 2. What are the major differences between birth defects and birth injuries? 3. Mr A , and his wife, has two children: a boy (5 years old) with Down syndrome and a girl(2 years old with PKU). Now they hope to have a healthy baby, please give them some suggestion. 4. Explain why Angelman syndrome and Prader-willi syndrome can result from both uniparental disomy and microdeletion . 5. What is the difference between a loss of function mutation and a gain of function mutation? Give an example