BIO 304 Genetics Examination I Name_________________ Fall 2000 SSN___________________ Select from the following terms, the one that best fits the phrases in questions 1-15 (2 points each): P site consensus hydrogen bond introns peptide A site spliceosome covalent bond S phase uracil euchromatin tRNA metaphase thymine aminoacyl tRNA synthetase snRNA anaphase I cytosine leaky RNA polymerase mRNA polyadenylation adenine release factors hydrophobic bond nucleotide genotype rRNA splicing heterochromatin primer acrocentric genome capping kinetochore metacentric exons hairpin loop homologous auxotrophic ORF silent recessive dominant haplo-insufficient prophase I metaphase II anaphase II phosphodiester heterochromatin null primase histone H1 scaffold missense 1. genome______ A complete set of the DNA of an organism. 2. phosphodiester Nucleotides are linked together in a single strand of DNA by this bond. 3. thymine______ In DNA, the complementary pairing partner of adenine is this base. 4. introns_______ In eukaryotes, these segments of RNA primary transcripts are removed by splicing. 5. homologous___ Pairs of very similar chromosomes found in diploid cells. 6. metacentric___ A chromosome with the centromere located in the center of the chromosome. 7. heterochromatinHighly compacted regions of eukaryotic chromosomes that stain densely. 8. scaffold______ A central core of non-histone proteins in the eukaryote chromosome from which loops of DNA project. 9. snRNA_______ This class of RNA is involved in pre-mRNA splicing in eukaryotes. 10. primer______ A short nucleic acid fragment that is extended at its 3’ end in DNA synthesis. 11. P site_______ The region of a ribosomal large subunit to which peptidyl tRNA binds. aminoacyl tRNA 12. synthetase___ The enzyme that is responsible for coupling specific amino acids with specific anticodons (and, thus, with codons). 13. auxotrophic__ A microorganism that is unable to synthesize a particular, important compound. 14. leaky_______ A mutation that reduces, but does not completely block, function of a protein. 15. anaphase I__ Meiotic stage at which, in the absence of crossing over, alleles segregate. * * * * * * * * * * * * * * * * * * * * * For each of the following, fill-in the blank with the term that best fits the meaning of the sentence or phrase. (2 points each) 16. If the A+T content of a DNA sample is 40%, what are the relative concentrations of each nitrogenous base in this sample? A__20%_ T__20%_ G_30%_ C_30%_17. __46______ How many DNA molecules are there in the nucleus of a human skin cell during G1 of the cell cycle? 18. all but bacterium Which of the following have a mitochondrial genome: a fish, a moss, a palm tree, baker’s yeast, a bacterium? 19. diabetes___ Which of the following phenotypes shows discontinuous variation in humans: adult height, diabetes, birth weight, intelligence, running speed? 20. ___8______ How many histone molecules are located within the core of each nucleosome? 21. ___I______ The form of RNA polymerase that transcribes rRNA genes in eukaryotes. 22. ___20_____ The number of amino acids encoded by sixty nucleotides. * * * * * * * * * * * * * * * * * * * * * Consider the following segment of one strand of a DNA molecule: 5’ CTACCTGGATCC 3’ 24. 5’ GGATCCAGGTAG 3’_____ What is the sequence of the complementary DNA strand? (be sure to note 5’ and 3’ ends)(4 points) 25. 5’ GGAUCCAGGUAG 3’_____ If the given strand serves as template for RNA synthesis, what is the sequence of the RNA segment that will be transcribed? (be sure to note 5’ and 3’ ends)(4 pts.) 26. N – GlySerArgStop - C_____ If this RNA segment is translated, what will be the amino acid sequence of the polypeptide product? (be sure to note N and C termini)(4 pts.) * * * * * * * * * * * * * * * * * * * * * The following pedigree concerns inheritance of a rare human disease: 27. Describe the causative gene as autosomal/sex-linked and recessive/dominant. (4 points) autosomal, recessive 28. What is the likelihood that individual A is a carrier for the disease-causing allele? (4 points) 2/3 (both of his parents are heterozygous; he is not homozygous) 29. What is the likelihood that the first child of couple AB will have this disease? (4 points) likelihood of getting recessive allele from A: ½ X 2/3 likelihood of getting recessive allele from B: ½ X ½ therefore, 1/3 X ¼ = 1/12 * * * * * * * * * * * * * * * * * * * * * 30. An albino plant mutant is obtained that lacks red anthocyanin pigment, normally made by an enzyme P. Tissue of the mutant plant lacks detectable activity for enzyme P. However, an immunological study shows clearly that aprotein with the identical properties of enzyme P is present in the cells of the mutant. What is the most likely explanation for this mutation? (provide a brief answer)(5 points) enzyme P is catalyically inactivated by the mutation but the mutant protein accumulates within the cells 31. Duchenne muscular dystrophy is a rare X-linked recessive disorder. A young woman is worried about having a child because her mother’s only brother had this disorder. The young woman herself has no siblings. What is the likelihood that the young woman’s first child will have Duchenne muscular dystrophy? (5 points) her grandmother was heterozygous; likelihood that her mother was heterozygous is ½; likelihood that she received the allele from her mother is ½ X ½ = ¼; likelihood that her first son receives the allele from her is ¼ X ½ = 1/8; likelihood that her first child is a son and affected is ½ X 1/8 = 1/16 32. A plant heterozygous at gene A (A/a) and at gene B (B/b) is testcrossed to determine the linkage of A and B. Four classes of progeny are obtained: Aa Bb, Aa bb, aa Bb and aa bb. If approximately one-fourth of the progeny consist of each class, what do you conclude regarding the linkage of A and B? (3 points) A and B are not linked (assorted independently) 33. If the cross described in question #32