AMCB CNM QUIZ TEST 6 QUESTIONS
AND ANSWERS.
Xeroderma pigmentosum (XP) -
\Rare autosomal recessive disease
Extreme sensitivity to UV light
People with XP have defective nucleotide excision repair pathways
Cockayne Syndrome -
\-Another DNA repair deficiency like XP
-Characterized by photosensitivity, premature aging, neurological symptoms, and early
death
-Defect in transcription-coupled repair
-Said to arise from RNA pol molecules permanently stalled at sites of DNA damage that
lie in important genes
Mutations become apparent -
\only after cell division; yielding 1 WT and 1 mutant cell
Point mutation -
\(missense, nonsense, silent): change of base pair
caused by: rep mistake, chemically alt base that mispairs
Deletion mutation -
\removal of one or more base pairs in the DNA
caused by: intercalating chemicals, DNA Pol slips, mobile genetic elements
Insertion mutation -
\insertion of one or more bases
caused by: intercalating chemicals, mobile genetic elements
Frameshift mutation -
\deletion or insertion of a number of bases that cannot by divided by 3
caused by: intercalating chemicals, mobile genetic elements
Inversion mutation -
\inversion of a sequence of bases (may cause frame shift)
caused by: mobile genetic elements
transition point mutation -
\purine to purine or pyrimidine to pyrimidine
transversion point mutation -
\purine to pyrimidine
AND ANSWERS.
Xeroderma pigmentosum (XP) -
\Rare autosomal recessive disease
Extreme sensitivity to UV light
People with XP have defective nucleotide excision repair pathways
Cockayne Syndrome -
\-Another DNA repair deficiency like XP
-Characterized by photosensitivity, premature aging, neurological symptoms, and early
death
-Defect in transcription-coupled repair
-Said to arise from RNA pol molecules permanently stalled at sites of DNA damage that
lie in important genes
Mutations become apparent -
\only after cell division; yielding 1 WT and 1 mutant cell
Point mutation -
\(missense, nonsense, silent): change of base pair
caused by: rep mistake, chemically alt base that mispairs
Deletion mutation -
\removal of one or more base pairs in the DNA
caused by: intercalating chemicals, DNA Pol slips, mobile genetic elements
Insertion mutation -
\insertion of one or more bases
caused by: intercalating chemicals, mobile genetic elements
Frameshift mutation -
\deletion or insertion of a number of bases that cannot by divided by 3
caused by: intercalating chemicals, mobile genetic elements
Inversion mutation -
\inversion of a sequence of bases (may cause frame shift)
caused by: mobile genetic elements
transition point mutation -
\purine to purine or pyrimidine to pyrimidine
transversion point mutation -
\purine to pyrimidine
