d The paucity of haplotypes in human populations reflects the relative"youth"ofthese E The linkage disequilibrium constant Provides a quantitative measure for the tendency of certain alleles to be inherited together from generation to generation 19. Which of the following is a false statement? A Somatic cells each contain roughly 200-2000 mitochondria. B Mitochondria carry out many important cellular functions, including the production of ATP, oxidation of fatty acids, regulation of intracellular Ca* levels and regulation of apoptosis C Mitochondria are also the source of beneficial free radicals d Sperm contain approximately 100 mitochondria and oocy tes approximately 100,000 mitochondria. E All of our cells contain mitochondria inherited exclusively from our mother. 20. Which of the following is a false statement? A The mitochondrial genome comprises circular double-stranded DNA containing-166k bp B The mitochondrial genome includes 37 genes: 13 protein coding genes, 22 tRNA genes and 2 ribosomal RNa genes C Mitochondrial genes do not contain introns D Mitochondria use the universal genetic code for the translation of proteins. E Mitochondrial tRNAs contain special modifications to allow the recognition of"wobble nucleotides within degenerate codons B Terminology and Short answer questions(40%) 1. Birth defect 2. Amniocentesis 3. 5p-syndrome 4. Oncogenes and tumor suppressor genes 5. Mitochondrial disease C Long answer questions(60%) 1. What are the differences between birth defects and birth injuries? 2. List all potential causes of birth defects 3. Explain why is familial retinoblastoma known to be inherited as an autosomal dominant trait when the responsible gene is recessive? 4. Mr A, 28years old, is a patient of DMD. His wife, 25, their first baby is Down syndrome. Now they plan to have 2nd baby, and come to you, the doctor, please help them 5. Look at the following pedigree, which inheritance model it is? WhyD The paucity of haplotypes in human populations reflects the relative “youth” of these populations. E The linkage disequilibrium constant D’ provides a quantitative measure for the tendency of certain alleles to be inherited together from generation to generation. 19. Which of the following is a false statement? A Somatic cells each contain roughly 200 -2000 mitochondria. B Mitochondria carry out many important cellular functions, including the production of ATP, oxidation of fatty acids, regulation of intracellular Ca2+ levels and regulation of apoptosis. C Mitochondria are also the source of beneficial free radicals. D Sperm contain approximately 100 mitochondria and oocytes approximately 100,000 mitochondria. E All of our cells contain mitochondria inherited exclusively from our mother. 20. Which of the following is a false statement? A The mitochondrial genome comprises circular double-stranded DNA containing ~ 16.6 k bp B The mitochondrial genome includes 37 genes: 13 protein coding genes, 22 tRNA genes and 2 ribosomal RNA genes. C Mitochondrial genes do not contain introns. D Mitochondria use the universal genetic code for the translation of proteins. E Mitochondrial tRNAs contain special modifications to allow the recognition of “wobble” nucleotides within degenerate codons. B. Terminology and Short answer questions(40%) 1. Birth defect 2. Amniocentesis 3. 5p- syndrome 4. Oncogenes and tumor suppressor genes 5. Mitochondrial disease C. Long answer questions(60%) 1. What are the differences between birth defects and birth injuries? 2. List all potential causes of birth defects 3. Explain why is familial retinoblastoma known to be inherited as an autosomal dominant trait when the responsible gene is recessive? 4. Mr A ,28years old, is a patient of DMD. His wife, 25, their first baby is Down syndrome. Now they plan to have 2nd baby, and come to you, the doctor, please help them. 5. Look at the following pedigree , which inheritance model it is? Why？