Term
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Definition
spontaneous
stable change in DNA structure
hereditary
due to proof-reading errors
several cycles of synthesis required for permanent incorporation |
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Term
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Definition
oxidation of C to U (not normally found in DNA)
U is bound to A after next replication
U is replaced with T after second replication
converts C-G to T-A
also can convert A->Hypoxanthine or G-> Xanthine |
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Term
| Apurination/Apyrimidination |
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Definition
| loss of a purine or pyrimidine base |
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Term
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Definition
highly mutagenic
naturally made in body |
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Term
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Definition
cyclobutane dimers that form between adjacent T's
knock of DNA polymerase |
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Term
| Phenotypically silent mutations |
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Definition
in noncoding region
mutation to another degenerate codon for same AA, threonine has many degeneracies because of it's structural importance |
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Term
| Blue People of Troublesome Creek |
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Definition
point mutation inactivated diaphorase
enzyme that converts methemoglobin back to hemoglobin |
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Term
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Definition
change to an AA with similar size and chemical nature to original AA
i.e. Val to Leu |
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Term
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Definition
change to an AA with different size and/or chemical nature to original AA
i.e. Gly to Phe |
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Term
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Definition
| part of functionally active site of amino acid, such as His in Hb |
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Term
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Definition
change to a different AA
Glu to Val in sickle cell anemia |
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Term
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Definition
change to a stop codon
termination of change |
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Term
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Definition
change of stop codon to other AA
makes protein longer |
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Term
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Definition
| point insertion or deletion that shifts reading frame |
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Term
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Definition
conversion of one purine-pyrimidine pair for other pair
A-T for G-C |
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Term
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Definition
conversion of a purine-pyrimidine pair for a pyrimidine-purine pair
A-T for T-A or C-G |
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Term
| Triplet-expansion mutation |
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Definition
series of G and C repeated 100s or 1000s of times
Fragile X syndrome |
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Term
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Definition
2D gel electrophoresis
isoelectric by size |
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Term
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Definition
unstable Hb structure -> precipitate
inc or dec O2 affinity
increase in rate of oxidation of Fe2+ to Fe3+
imbalance in synthesis of subunits
changes in properties of globin chain
proline is alpha helix breaker |
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Term
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Definition
| precipitating contents of damaged erythrocytes that adhere to RBC membrane |
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Term
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Definition
imbalance in synthesis of Beta globin chains
Hb Bart's- all gamma subunits
alpha chain precipitate- Heinz bodies
1 defective Beta gene gives Beta-Thalassemia minor
2 defective Beta genes give Beta-Thalassemia major |
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Term
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Definition
1 defective gene = silent carrier
2 defective genes = alpha-Thalassemia trait (mild symptoms)
3 defective genes = Hemoglobin H disease (severe symptoms)
4 defective genes = fetalis (fatal at birth) |
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