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Genetics & MCB

Genetics & Molecular Biology

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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