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MUA M2B2 GD

genetics block 2

TermDefinition
1. Coding regions exons
2. Non-coding regions introns
3. RNA polymerase Sigma factor =   Enables RNA polymerase to recognize and attach more tightly to promoter regions
4. Translation mRNA translated to Protein
5. Rho-dependent termination the RNA contains a binding site for a protein called Rho factor where the protein binds and moves towards the RNA polymerase
6. Rho-independent termination a region rich in C and G nucleotides which bind together and make a stable hairpin causing polymerase to stall.
7. Actinomycin D binds to the DNA template and interferes with the movement of RNA polymerase.
8. Rifampin Inhibits Prokaryotic RNA synthesis
9. In eukaryotes mRNA is _____sistronic monocistronic
10. Promoter cites of RNA polymerase II CAAT box, TATA box
11. RNA polymerase II binds to Transcription Factor IID on the TATA box.
12. Pre-mRNA splicing is done by snRNPs in a Spliceosome
13. Alternative spicing examples IMMUNOGLOBULINS, DOPAMINE RECEPTORS, TROPOMYOSIN VARIANTS
14. Inhibitor of RNA polymerase II found in poisonous mushroom α-amanitin-a in Amanita phalloides. Aka Death Cap
15. α-Amanitin forms a tight complex with polymerase, thereby inhibiting mRNA synthesis.
16. Alpha – Amanitin treatment -Gastrointestinal decontamination -high dose penicillin (inhibits amanitin in liver) -LIVER TRANSPLANT
17. Terminating Codon (UAA, UAG & UGA)
18. Initiating Codon (AUG)
19. Protein coding region of mRNA is composed of a contineous, non-overlapping string of codons called Open reading frame (ORF).
20. Prokaryotic ORFs contain short sequences, (3-9bp) upstream of start codon called Ribosome binding site(RBS) or Shine Dalgarno Sequence composed of 5’-AGGAGG-3’ which binds to the 5’-CCUCCU-3’
21. 3 modifications for the recruitment of ribosome to mRNA Methylated guanine cap at the 5’ end , Kozak sequences :- presence of a purine 3 bp upstream of AUG and presence of a guanine immediately downstream. Presence of a poly A tail
22. tRNA Terminus or acceptor arm is 5’-CCA-3’ which is the binding site of amino acid to tRNA
23. tRNA unusual or modified bases uridine, thymine, pseudouridine, Inosine, dihydroxyuridine etc.
24. Ribosome Large subunit contains the peptidyl transferase
25. Ribosome Small subunit contains the decoding center
26. Prokaryotic Ribosome 50s+30s = 70s
27. Eukaryotic Ribosome 60s + 40 = 80s
28. 16 S rRNA in the small subunit of ribosomes is the binding site for the mRNA.
29. 23 S rRNA of the large subunit is the ribozyme which catalyzes the peptidyl transferase reaction.
30. Translation proceeds in four phases Activation, initiation, Elongation, Termination
31. eLF are only in eukaryotes
32. Translation factors in eukaryotes that use GTP eLF3, EF, EF2
33. Aminoglycosides Binds 30 S ribosomal subunit and inhibit shine delgarno sequence
34. Tetracyclines Binds 30 S ribosomal subunit on inhibits elongation
35. Chloramphenicol Binds 50 S subunit and inhibits peptidyl transferase enzyme
36. Macrolides Binds 50 S subunit inhibits translocation of ribosome
37. Linezolid Binds 50 S subunit and inhibits association with 30 S
38. Pseudomonias and Diphtheria toxin is an enzyme that modifies EF-2 by transferring an ADP-ribosyl group from NAD+ to the diphthamide of EF-2 and shuts down eukaryotic protein synthesis
39. Shiga toxin Inactivates eEF-1….inhibits elongation (Cuts 28 S rRNA in 60S subunit of eukaryotes)
40. Lac operon Promoter Binds RNA polymerase
41. Lac operon Operator Binds the lac repressor protein
42. Lac operon CAP site Binds the Catabolite Activator Protein (CAP)
43. lacZ Encodes beta-galactosidase, converts lactose into allolactose
44. lacY Encodes lactose permease protein required for transport of lactose and analogues
45. lacA Encodes transacetylase modifies lactose and analogues
46. The lac operon inducer is allolactose, an alternative form of lactose, binds the repressor
47. Glucose high cAMP low, lactose low repressor on transcription low
48. Glucose high cAMP low lactose high repressor removed transcription low
49. Glucose low cAMP high, lactose high repressor removed transcription high
50. Histone Acetylation acetyl groups are attached to lysines in histone tails dna activation
51. DNA methylation, the addition of methyl groups to certain bases in DNA (usually cytosine), is associated with reduced transcription
52. Enhancers cis-acting DNA sequences that increase the rate of initiation of transcription by RNA polymerase II
53. Micro RNA Effectively blocks production of protein
54. Interfering RNA protect against viruses and turn off genes quickly
55. Dicer, a multisubunit complex, binds to double-stranded RNA molecules and cleaves them into ~21-nucleotide molecules called small interfering RNAs (siRNAs).
56. SiRNAs bind to target mRNA and mark it for RISC complex where it is unwound and degraded
57. Wobble Variations in the 3rd position on the mRNA codon often encodes the same amino acid.
58. Missense mutation diseases Sickle cell anemia -Phenylketonuria-G6PD -Galactosemia
59. Nonsense mutation diseases Hemophilia- factor VIII deficiency
60. Splice site mutation diseases include -β-Thalassemia -Tay Sachs disease-Gaucher’s disease-LDL receptor mutation
61. Frameshift mutation disease Duchene muscular dystrophy
62. Dynamic mutation is caused by the expansion of trinucleotide repeats within the genome
63. Trinucleotide repeat mutation diseases Fragile X, Huntingtons, Myotonic Dystrophy
64. Restriction endonucleases recognize and cut palindromic sequences
65. Host Bacteria uses 2 enzymes in defense Methylase (methyltransferase) and Restriction endonuclease (restriction enzymes)
66. Plasmid cloning vector are small, circular, extrachromosomal DNA cloning limit of 100 to 10,000 base pairs or 0.1-10 kilobases (kb).
67. Phage cloning vector about 1000 times greater than that of the plasmid vector. They also have a larger cloning limit than plasmids, consisting of 8-25 kb.
68. Bacterial Artificial Chromosomes (BAC) can accept DNA inserts of around 300 kb.
69. Yeast Artificial Chromosomes (YAC) is a synthetic DNA that can accept large fragments of foreign DNA (particularly human DNA).
70. In vivo DNA Amplification cloning
71. In vitro DNA amplification PCR
72. Common PCR DNA polymerases Taq or Pfu DNA polymerase
73. Northern blot can be used to determine which tissues express FMRl gene in fragile X syndrome
74. Western blot used for HIV infection determination Immunoblots, no bands = negative
75. Restriction Fragment Length Polymorphism Abolish the cleavage site of the restriction enzyme, Create a new cleavage site for a restriction enzyme, Insertion or deletion within a region flanked by a restriction enzyme
76. M phase inhibitor Vinca alkaloids and taxols bind to tubulin preventing mitosis
77. S phase inhibitor Antimetabolites inhibit DNA synthesis
78. Etoposides inhibit S and G2 phase by topoisomerase II inhibition which increases DNA degradation
79. Bleomycin causes G2 inhibition by increased DNA strand breaks
80. Homologous recombination happens during the pachytene stage of Prophase I during meiosis
81. Chiasmata (chiasma) are where chromosomes touch each other and exchange genes (crossing over.)
82. Non-disjuction is the failure of chromosome pairs to separate during meiosis stage 1 or meiosis stage 2 specifically in the anaphase
83. If non-disjuction occurs during 1st meiotic division all sperm abnormal
84. Downs . Chr 21
85. Edwards Chr 18
86. Patau Chr 13
87. XO Turners Syndrome
88. XXY Klinefelter Syndrome
89. XXX Triplo-X Syndrome
90. XYY Jacob Syndrome
91. G1 regulator cyclin D, cdk4,6
92. G1and S checkpoint regulator cyclin E , cdk 2
93. S regulator cyclin A , cdk 2
94. M phase regulators cyclin B cdk 1
95. Spindle checkpoint block cytokinesis if all fibers not attached to kinetochores
96. P53 checkpoint in G1 that causes apoptosis
97. Li-Fraumeni Syndrome refers to the inherited predisposition to develop cancers in many organs owing to germ-line mutations of p53.
98. E2F is a transcription factor that mediates growth-dependent activation of genes required to make the transition into and through S phase.
99. Rb binds and inactivates E2F under conditions of growth suppression
100. Normally, MetHb formed in the RBCs reduced back to Fe2+ by MetHb reductase enzyme system
101. By 3 month age, almost all Hb is of adult type 2β2 (Hb A)
102. HbS Variant: Sickle cell Disease Valine(V) replaces Glutamic acid (E) residue at position 6 in the beta chains of globin
103. HbS can be detected by southern blotting
104. HbC Variant: Hemolytic Anemia Mutation in β globin HBB, GLU6LYS
105. Hb Hammersmith HBB, PHE42SER, Ser is smaller, heme drops out of pocket, Heinz bodies, hemolysis and cyanosis
106. Hb Hyde Park HBB, HIS92TYR, causes Methemoglobin
Created by: splashgreen