d The paucity of haplotypes in human populations reflects the relative"youth"ofthese 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 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 Birth defects are defined as abnormal ities of structure, function, or body metabolism that are present at birth 2. amniocentesis A sample of the amniotic fluid surround ing the fetus is withdrawn through a needle inserted into the mothers uterus 3. 5p-syndrome A syndrome of multiple congenital anomalies, mental retardation, microcephaly abnormal face, and a mewing cry in infants with deletion of a B group chromosome(Bp-) later identif ied as Sp- 4. Oncogenes and tumor suppressor genes Oncogenes: mutation, overactive or overexpressed forms of proto-or 5. Mitochondrial disease Mitochondrial disease is a chronic, genetic disorder that occurs when the mitochondria of the cell fails to produce enough energy for cell or organ functionD 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 Birth defects are defined as abnormalities of structure, function, or body metabolism that are present at birth. 2. Amniocentesis A sample of the amniotic fluid surrounding the fetus is withdrawn through a needle inserted into the mother's uterus 3. 5p- syndrome A syndrome of multiple congenital anomalies, mental retardation, microcephaly, abnormal face, and a mewing cry in infants with deletion of a B group chromosome (Bp-), later identified as 5p-. 4. Oncogenes and tumor suppressor genes Oncogenes: mutation, overactive or overexpressed forms of proto-oncogenes. 5. Mitochondrial disease Mitochondrial disease is a chronic, genetic disorder that occurs when the mitochondria of the cell fails to produce enough energy for cell or organ function