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32 Cards in this Set
- Front
- Back
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What mutation decreases affinity of RNA polymerase for promoter ↓ mRNA ↓ protein?
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Promoter Mutations
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What mutations occur at intron-exon sequence boundaries and result in
loss of coding exons or inclusion of introns in the primary mRNA transcript? |
Splice Site Mutations
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Insertions of transposable genetic elements, transposons, often results in what?
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Frameshift Mutations
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These are all linked to what mutation?Duchenne muscular dystrophy
Breast cancer Colon cancer Hemophilia |
Transposable Genetic Elements
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What gene mutation produce dominant disorders?
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Gain of Function Mutations
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What mutation is often seen with recessive diseases?
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Loss of Function Mutations
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What is an example of a dominant disorder?
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Charcot Marie Tooth Disease
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What results in the loss of 50% of the protein product but 50% that remains is sufficient for normal function?
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Loss of Function
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WHich is more common? Loss of Function or Gain of Function???
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Loss of Function
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What mutation do you have Heterozygotes are thus unaffected, but the homozygote is affected?
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Loss of Function
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What is a Missense Mutation resulting in Mutant b-globin produced?
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Sickle Cell Anemia
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Irradiation of whole body with ________ rads is usually fatal.
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300-500 rads
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Irradiation of ______ rads can be targeted to small tissue volume (tumors).
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10,000
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1 rad is equal to what?
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100 ergs of energy (1 erg = 107 J) per gram of tissue
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What result in DNA adducts (intercalating agents), chromosomal breaks or aneuploidy (abnormal chromosomal content)?
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Chemical mutagens
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How many DNA modification events occur per cell per day?
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up to 500,000
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What type of repair is responsible for removal of thymine dimers and large chemical adducts?
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Nucleotide Excision Repair
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How many current chromosomal abnormalities exsist?
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about 20,000
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Chromosome abnormalities are present in at least ___ of all spermatozoa and ____ of mature oocytes.
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10%; 25%
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What Chromosomal Abnomality is an example of Nondisjunction during Meiosis?
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Downs Syndrome
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What chromosome inversion results in reinserted peice of DNA with centromere?
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Pericentric Inversion
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What results in translocation between chromosome 9 and chromosome 22 (will end up as short Philadelphia gene)?
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Chronic Myeloid Leukemia
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ABL-BCR promotes replication of
WBC in blood and bone marrow (100-fold more than normal) in what disease??? |
Chronic Myeloid Leukemia
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ABL-BCR gene is located within what chromosome and results in Chronic Myeloid Leukemia??
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Philadelphia chromosome (extra short chromosome 22 due to translocation with chromosome 9)
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What chromosomal abnormality do you end up with 2 p arms and 2 q arms?
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Isochromosomes
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What chromosome abnormality results in breaks in genetic dna and resulting chromosome forms a ring?
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Ring Chromosome
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What chromosome abnormality results in breaks in chromsome, deletion of DNA, and fusion of left over parts resulting in two centromeres?
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Dicentric Chromosome
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___________ result in construction of a protein with one or more altered amino acids which could impact protein structure and function.
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Missense Mutations
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____________involve creation of a stop codon within the coding sequence of a protein and result in truncated protein structure which may or may not impede function.
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Nonsense Mutations
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_________ involve chromosomal swapping of DNA sequence which can create oncogenic proteins or prevent critical protein production.
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Translocation
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What are the 3 outcomes of cells that do not have a functional DNA repair mechanism?
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cancer, senescence or apoptosis
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How do chromosomal disorders cause disease?
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increase/decrease chromosome content or translocations
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