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Genetics & MCB
Genetics & Molecular Biology
| Question | Answer |
|---|---|
| What do the following blots analyze? 1. Western 2. Southern 3. Northern | 1. protein 2. DNA 3. RNA |
| What method is used to amplify small amounts of DNA for analysis? | PCR |
| What is anticipation? | where the symptoms of a disorder become more apparent and often have greater severity at an earlier age as it is passed on to the next generation |
| Which phase does each occur: 1. nuclear envelop breakdown 2. chromosome align 3. cohesins degraded 4. assembly of contractile ring 5. chromosomes move to poles | 1. prometophase 2. metaphase 3. anaphase 4. telophase 5. anaphase |
| Region of the chromosome where chromatids are held together during mitosis. | centromere |
| Attachment point for spindle fibers located within the centromere. | kinetochore |
| small region containing the centrioles | centrosome |
| pairing of homologous chromosomes occurs during ___ phase. | Metaphase |
| 1. What is germline mosaicism? 2. How does it effect offspring? | 1. condition in which an individuals germline cells develop mutations while their somatic cells do not 2. disease may present in offspring while they them self are not effected |
| Allows separation of extremely long DNA molecules. | pulsed-field gel electrophoresis |
| Fluorescence in situ hydridization (FISH) is used to ... | located specific DNA sequences on chromosomes |
| 1. High levels of Alpha-fetoprotein is associated with? 2. Low levels of Alpha-fetoprotein is associated with? | 1. Neural tube defects 2. Downs syndrome |
| 1. Which exam is able to be performed earlier, Chorionic villus sampling or amniocentesis? 2. How many chromosomes are in a triploidy? | 1. chorionic villus sampling 2. 69 |
| 1. Aneuploidy is... 2. Aneuploidy is most commonly caused by... | 1. abnormal number of chromosomes 2. nondisjunction |
| 1. Kleinfelter chromosome abnormality? 2. Turner syndrome abnormality? | 1. XXY 2. XO |
| Kleinfelter's and Turners syndrome occurs from nondisjunction following ___. | meosis I |
| Why are females said to have a mosaic pattern of gametic expression? | in some cells the maternal X is active while the paternal is inactive, while in other cells the paternal is inactive while the maternal is inactive |
| XYY occurs from nondisjunction of __ | meiosis II |
| How can locus heterogeneity occur? | mutations in genes encoding different subunits of a multisubunit protein or proteins that act together in different steps in a pathway |
| What type of dominance is blood groups? | Codominance |
| Affected male that transmits the disorder to all female offspring and no sons. | X-linked dominant |
| Affected male that transmits the disorder to all male offspring. | Y-linked |
| Affected male that transmits the disorder to both male and female offspring. | autosomal dominant |
| Unaffected female that transmits disorder to 50% males. | X-linked recessive |
| What is a transition mutation? | a purine is substituted for a purine or a pyrimidine is substituted for a pyrimidine |
| What is a transversion mutation? | a purine is substituted for a pyrimidine or a pyrimidine is substituted for a purine |
| What is a silent mutation? | Mutation in an intron, the wobble position or that results in the same amino acid |
| 1. What is a missense mutation? 2. What is a nonsense mutation? | 1. a transition or transversion 2. codes for a stop codon |
| How does a frameshift occur? | addition or deletion of 1 or 2 nucleotides |
| What are Restriction Fragment Length Polymorphisms? | differences in DNA based on the occurence of restriction sites |
| 1. Multiple phenotypic traits conferred from one gene 2. Differences in phenotype depend on whether mutation is of maternal or paternal origin | 1. pleiotropy 2. imprinting |
| 1. What is recombination? 2. What is the relative recombinant frequency of two linked genes? | 1. the probability that two genes will crossover to different chromosomes during meosis 2. less than 50% |
| Different mutations at different alleles of the same locus, resulting in similar phenotypes | Allelic heterogeneity |
| variable expressivity | Different symptoms (or severity of symptoms) in individuals with same mutation |
| incomplete penetrance | Not all individuals with a mutant genotype show the mutant phenotype |
| proband | the person whose phenotype first brought attention to the investigation |
| polymorphism | traits come in two or more distinct forms (two or more alleles) |
| 1. Which amino acids primarily make up histones? 2. What effect do histone acetylases have on gene expression? 3. What effect does histone methylation have on gene expression? | 1. lysine and arginine are positively charged and bind the negatively charged DNA 2. decrease the positive charge of histones → loosen DNA → ↑ gene expression 3. silence genes |
| 1. What is highly condensed chromatin called? 2. Which nucleotides have two rings? | 1. heterochromatin 2. purines (adenine, guanine) |
| 1. Deamination of adenine makes... 2. Deamination of cytosine makes... 3. Which nucleotide has a methyl group? | 1. Guanine 2. Uracil 3. thymine |
| What 3 amino acids are necessary for purine synthesis? | purine are AG require AG amino acids 1. glycine 2. aspartate 3. glutamine |
| What is the difference between adenosine and ATP? | 1. adenosine is a nucleoside (base + ribose) 2. ATP is a nucleotide (base + ribose + 3 phosphate groups) |
| Which two molecular pathways is carbamoyl phsophate involved in? | 1. de novo pyrimidine synthesis 2. urea cycle |
| 1. ↑ orotic acid, ↑ NH4 1. ↑ orotic acid, normal NH4 | 1. Ornithine transcarbamoylase 2. orotic aciduria |
| Which enzymes of DNA snythesis do the following drugs inhibit: 1. hydroxyurea 2. 5-fluorouracil 3. methotrexate 4. Trimethoprim | 1. ribonucleotide reductase 2. thymidylate synthase 3. dihydrofolate reductase 4. dihydrofolate reductase |
| 1. Adenosine deaminase deficiency leads to which disorder? 2. HGPRT deficiency leads to which disorder? What are the classic findings? | 1. Severe combined immunodeficiency disease 2. Lesch-Nyhan syndrome; retardation, self-mutilation, hyperuricemia, gout |
| 1. Which problem in DNA repair is seen in hereditary nonpolyposis colorectal cancer 2. Which direction is DNA synthesized? | 1. mismatch repair 2. 5' → 3' |
| Which prokaryotic DNA polymerase: 1. degrades RNA primer and fills gap with DNA 2. synthesized leading and lagging strand 3. proofreads | 1. DNA polymerase I 2. DNA polymerase III 3. DNA polymerase III |
| 1. mRNA start codon 2. Which amino acid does this code for in eukaryotes? 3. Which amino acid does this coe for in prokaryotes? | 1. AUG 2. methionine 3. formyl-methionine |
| mRNA stop codons (3) | 1. UGA = U Go Away 2. UAA = U Are Away 3. UAG = U Are Gone |
| What do the following eukaryotic RNA polymerases make: 1. RNA polymerase I 2. RNA polymerase II 3. RNA polymerase III | 1. rRNA 2. mRNA 3. tRNA |
| What are the 3 RNA processing steps that occur in eukaryotes after transcription? | 1. 5' capping 2. polyadenylation of 3' end 3. splicing of introns |
| 1. Which disorder is characterized by antibodies to spliceosomal snRNP? 2. What direction is DNA read during transcription? 3. What direction is RNA read during translation? | 1. Systemic lupus erythematosis 2. 3'→5' 3. 5'→3' |
| 1. What are the subunits of the eukaryotic ribosome? 2. What are the subunits of the prokaryotic ribosome? | 1. 40S + 60S → 80S 2. 30S + 50S → 70S |
| 1. How is eEF-2 involved in protein synthesis? 2. Which microbes inhibit eEF-2? | 1. involved in translocation of ribosome 2. Diptheria and pseudomonas |
| If there is DNA damage, Rb and p53 inhibit the cell cycle at which point? | G1 to S phase |
| What cell cycle phases do the following cell types go through: 1. Permanent 2. Stable 3. Labile | 1. Remain in G0 2. Enter G1 from G0 when stimulated 3. rapidly progress through all phases and never go to G0 |
| Which cells are of the following cell types: 1. labile 2. permanent 3. stable | 1. (rapidly dividing) bone marrow, gut, skin 2. neurons, skeletal & cardiac muscle, RBCs 3. hepatocytes, lymphocytes |
| 1. protein complex involved in retrograde transport from Golgi → ER 2. protein complex involved in anterograde transport from RER → cis-Golgi | 1. COPI 2. COPII |
| 1. Which molecule targets proteins to the lysosome? 2. Disease in which there is failure of addition of this molecule. | 1. mannose 6 phosphate 2. I-cell disease |
| Molecular motor protein involved in: 1. retrograde mirotubule transport 2. anterograde microtubule transport | 1. dynein 2. kinesin |
| Microtubule polymerization defect resulting in ↓ phagocytosis | Chediak-Higashi syndrome |
| 1. Which disorder presents with infertility, recurrent sinusitis and bronchiectasis? 2. What is the defect? | 1. Kartagener's syndrome 2. dynein arm defect |
| Which cell types are involved in the following immunohistochemical stains: 1. Vimentin 2. Desmin 3. Cytokeratin 4. GFAP | 1. Connective tissue 2. Muscle 3. Epithelial cells 4. Neurons |
| Which tissues are composed of: 1. Type I collagen 2. Type II collagen 3. Type III collagen 4. Type IV collagen | Be So Totally Cool, Read Books 1. Bone, Skin, Tendon 2. Cartilage 3. Reticulin 4. Basement membrane |
| Which type of collagen is defective: 1. osteoarthritis 2. osteogenesis imperfecta 3. Goodpasture syndrome 4. Keloid formation 5. Alport syndrome 6. Ehler's Danlos | 1. Type II 2. Type I 3. Type IV 4. Type III 5. Type IV 6. Type III |
| 1. How is vitamin C involved in collagen synthesis? 2. Hereditary nephritis and deafness | 1. hydroxylation of prolines and lysines in ER 2. Alport's syndrome; type IV collagen defect |
| 1. Depigmented, steely hair, with neurologic degeneration in a male neonate 2. What is the cause for the disorder? | 1. Menkes disease 2. copper transport defect leading to copper deficiency; ↓ tropocollagen cross-linking |
| Which type of osteogenesis imperfecta is fatal in utero? | type II |
| What is loss of heterozygosity? | when patient has a mutation in a tumor suppressor gene, the complementary tumor suppressory gene must also be mutated before cancer develops |
| 1. Which chromosome is involved in Prader-Willi and Angelman's syndromes? 2. Which allele is deleted in Prader-Willi syndrome? | 1. chromosome 15 2. Paternal |
| What are the defects usually seen in the following inheritance patterns: 1. Autosomal dominant 2. Autosomal recessive | 1. Defects in structural genes 2. Enzyme deficiencies |
| Which chromosome is involved in: 1. AD Polycystic Kidney Disease 2. Familial adenomatous polyposis 3. Huntington's disease 4. Neurofibromatosis 1 5. Neurofibromatosis 2 6. von Hippel-Lindau | 1. 16 (16 letters in "polycystic kidney") 2. 5 (5 letters in "polyp") 3. chromosome 4 4. 17 (17 letters in von Recklinghausen) 5. chromosome 22 6. chromosome 3 |
| 1. What is the defect in familial hypercholesterolemia? 2. Inherited disorder with telangiectasia, recurrent epistaxis, AVMs. | 1. defective or absent LDL receptor 2. hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) |
| 1. Mental retardation, macro-orchidism 2. Mental retardation, small jaw, clenched hands and congenital heart disease 3. mental retardation with microcephaly, cleft lip, holoprosencephaly, polydactlyl. | 1. Fragile X 2. Edward's syndrome 3. Patau's syndrome |
| Which chromosomal trisomy is involved in: 1. Down syndrome 2. Edward's syndrome 3. Patau's syndrome | 1. trisomy 21 2. trisomy 18 3. trisomy 13 |
| 1. Mental retardation, "elfin" facies from chromosome 7 microdeletion 2. Mental retardation, high pitched crying, chromosome 5 microdeletion | 1. Williams syndrome 2. Cri-du-chat syndrome |
| 1. Where is the chromosome deletion in DiGeorge syndrome? 2. Which disorder presents similar to DiGeorge syndrome but may involve the palate and face instead of the thymus? | 1. 22q11 2. Velocardiofacial syndrome |
| Hunters or Hurler's syndrome 1. Which is X linked 2. Which has corneal clouding | 1. Hunters 2. Hurlers (Hunters see clearly) |
| 1. Basic amino acids 2. Acidic amino acids | 1. histidine, lysine, arginine 2. Asparate, glutamate |
| 1. What is the primary function of the nucleolus? 2. Where in the cell does RNA processing occur? | 1. rRNA production 2. nucleus |
| 1. Which enzyme has 5' to 3' exonuclease activity? 2. Which enzyme has 3' to 5' exonuclease activity? | 1. DNA polymerase I 2. DNA polymerase III |
| Steps of PCR | 1. DNA denaturation to form 2 strands 2. DNA primers annealed to each strand 3. Taq polymerase elongation of DNA sequence |
| Primary function of the nucleolus | rRNA synthesis |
| 23 year old with recent onset of myoclonic seizures, muscle weakness and red blotchy muscle biopsy. What is the most of inheritence? | Mitochondrial - myoclonic epilepsy |
| Offspring receives 2 copies of chromosomes from 1 parent and no copies from the other parent. | Uniparental disomy |
| Presence of both normal and mutated mtDNA resulting in variable expression in mitochondrial inherited disease | Heteroplasmy |
Created by:
amichael87
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