Term
| What is positional cloning? |
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Definition
| cloning a gene based on its position on a chromosome |
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Term
| What are the steps of positional cloning? |
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Definition
1. Genetic mapping
2. Physical mapping
3. Transcript mapping
4. Gene sequencing
5. Transformation of the mutant organism with the wild-type gene |
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Term
| How might you check to see if a gene you cloned is being transcribed? |
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Definition
| Could use Northern Blotting to see if an mRNA transcript can be detected |
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Term
| Is Huntington's Disease an autosomal dominant or autosomal recessive disorder? |
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Definition
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Term
| What causes Huntington's Disease? |
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Definition
| -expansion of a CAG repeat in the huntingtin gene |
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Term
| How many copies of a CAG repeat is an HD patient likely to have? |
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Definition
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Term
True or False
The mutant huntingtin protein is cytotoxic |
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Definition
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Term
| Is HD a gain of function mutation, or loss of function? |
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Definition
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Term
| How might you diagnose HD? |
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Definition
1. Amplify the CAG repeat using PCR
2. Use gel electrophoresis to determine how many repeats there are
3. Compare the 'mutant' to the results of a normal DNA sample |
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Term
True or False
Southern Blotting is required for molecular diagnosis of HD |
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Definition
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Term
True or False
Cystic Fibrosis is a gain of function mutatin |
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Definition
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Term
| Is cystic fibrosis autosomal recessive or autosomal dominant? |
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Definition
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Term
| What are some phenotypic observations that might indicate cystic fibrosis? |
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Definition
-salty sweat
-mucus accumulation in lungs/pancreas/liver |
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Term
| What does the CF gene encode? |
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Definition
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Term
| How might you diagnose CF? |
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Definition
Southern Blotting using 2 allele-specific probes
-1 probe for the 'normal' allele
-1 probe for the mutant allele
See if the DNA of the person in question hybridizes to the normal or mutant allele, comparing to the results of a 'normal' individual. |
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