Term
| Difference between transition and transversion mutations? |
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Definition
-Both point mutations but transition is same to same, and transversion is purine ->pyrimidine (or vice versa)
-Sickle cell is transversion |
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Term
| What causes O6 methylated guanine, and what does it result in? |
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Definition
-Alkylating agent (smoke etc.)
-Results in GC ----> AT transition |
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Term
| Which are the acrocentric chromosomes? |
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Definition
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Term
| What is a Robertsonian translocation? |
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Definition
| -When the long arms of two acrocentrics join and they lose their p arms. |
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Term
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Definition
-Translocation between 8 and 14.
-c-myc from 8 goes to 14 and is now under the control of a promoter for Ig heavy chain
-Causes cancer and swelling of jaw, loose teeth and enlarged nodes |
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Term
| Chronic myelogenous leukemia? |
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Definition
-Translocation between 9 and 22
-Puts bcr (22) next to c- abl (9) and they are transcribed and translated together
-Creates a super kinase |
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Term
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Definition
-UAG, UAA, UGA (you go away, you are away, you are gone)
-called amber, ochre, & opal |
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Term
| What are two base analog examples that can be incorporated into DNA? |
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Definition
2-Amopurine (2-AP)
5-Bromo-uricil
-They are able to tautomerise and bind with multiple other bases |
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Term
| Intercalating agents? Examples? |
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Definition
-Planar molecules that insert themselves into DNA and confuse DNA pol, ultimately causing a frameshift mutation
-Proflavin, acridine orange, ethidium bromide |
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Term
| What does UV light, gamma rays, and heat do to DNA? |
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Definition
-UV causes T dimers
-Gamma rays break the phosphodiester backbone
-Heat raises the occurrence of deamination reactions (CAG) |
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