Medical Genetics (BIOL 3327) Review questions for exam I (part I) Chapter 2. The cellular and molecular basis of inheritance DNA: the hereditary material 1. nucleic acid 2. nucleotide 3. transforming principle 4. Fredrick Griffith 5. isotope 6. X-ray diffraction 7. Rosalind Franklin 8. ribose 9. deoxyribose 10. nitrogenous base 11. purine 12. pyrimidine 13. adenine 14. guanine 15. cytosine 16. thymine 17. uracil 18. phosphate group 19. phosphodiester bond 20. deoxyribonucleotide 21. 5’ end 22. 3’ end 23. antiparallel 24. complementary base pairing In this section, students are expected to be able to 1. draw the basic structure of DNA 2. explain the difference between DNA and RNA molecules 3. describe briefly the experiment performed by Fredrick Griffith 4. describe the DNA model proposed by Watson and Crick. 5. describe briefly contributions made by Rosalind Franklin to the DNA structure model proposed by Watson and Crick. Replication 1 1. 2. 3. 4. 5. 6. 7. origin of replication leading strand lagging strand DNA polymerase DNA ligase Okazaki fragment semiconservative In this section, students are expected to be able to 8. describe the DNA replication process 9. explain basic functions of DNA polymerase in the DNA replication Chromosome Structure 1. chromatin 2. chromosome 3. histone protein 4. nucleosome 5. centromere 6. homologous chromosome 7. non-homologous chromosome 8. chromatid 9. sister chromatid 10. cytogenetics 11. karyotype Types of DNA sequence 1. genome 2. repetitive sequence 3. nuclear gene 4. single copy gene 5. multigene family 6. gene superfamily 7. exon 8. intron 9. promoter 10. transcription termination 11. transcription initiation 12. extragenic DNA 13. satellite DNA 14. telomeric DNA 15. highly repetitive interspersed repetitive DNA sequence 16. SINE sequence 17. Alu sequence 2 18. LINE 19. mitochondrial DNA Transcription 1. transcription 2. messenger RNA (mRNA) 3. template strand 4. sense (coding) strand 5. promoter 6. TATA box 7. terminator 8. RNA processing 9. exon 10. intron 11. RNA splicing 12. alternative splicing 13. 5’ capping 14. poly(A) tail 15. polyadenylation 16. acceptor site 17. donor site 18. pre-mRNA 19. mature mRNA 20. tRNA 21. rRNA In this section, the students are expected to be able to 22. explain the relationship among the template strand, sense (coding) strand, and mRNA 23. describe the structure and function of mRNA 24. list the major categories of RNA 25. describe the major events in transcription 26. describe the functions of RNA polymerase, mRNA, ribosomes, and tRNA 27. distinguish between the pre-mRNA and mature mRNA 28. describe the locations of pre-mRNA and mature mRNA 29. describe the major events in the post-transcriptional modification of mRNA 30. explain the biological significance of alternative mRNA splicing Translation 1. translation 2. ribosome 3. tRNA 3 4. rRNA 5. polypeptide 6. genetic code 7. codon 8. reading frame 9. codon degeneracy 10. codon redundancy 11. anticodon 12. initiation codon In this section, the students are expected to be able to 13. describe the key players in the translation 14. describe the major events in the translation 15. use the genetic codon table to translate the mRNA sequences to protein sequences 16. explain the codon redundancy Chapter 2 Chromosomes and cell division Human Chromosomes 1. chromatin 2. chromosome 3. histone protein 4. nucleosome 5. centromere 6. homologous chromosome 7. non-homologous chromosome 8. chromatid 9. sister chromatid 10. cytogenetics 11. autosome 12. sex chromosome 13. karyotype 14. gene 15. DNA marker 16. locus (loci) 17. allele 18. metaphase plate Cell division and gametogenesis 1. 2. 3. 4. mitotic spindle interphase gap 1 (G1) synthesis phase (S) 4 5. gap 2 (G2) 6. prophase 7. prometaphase 8. metaphase 9. anaphase 10. telophase 11. cytokinesis 12. fertilization 13. zygote 14. pachytene 15. autosome 16. sex chromosome 17. synapsis 18. synaptonemal complex 19. chiasma 20. crossing over 21. gamete 22. testes 23. ovary 24. oocyte 25. primary spermatocyte 26. primary oocyte 27. spermatid 28. sperm cell 29. spermatogonial cell 30. oogonia 31. genotype 32. phenotype 33. homozygote 34. heterozygote 35. polar body 36. bivalent 37. trait 38. non-disjunction 5