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Gene Expression III

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Question
Answer
EST tags   Expressed sequences that are derived from cDNA libraries. Informational tags that provide a guideline as to what's happening at the level of cDNA  
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Single Strand Confirmation Polymorphism   A single nt change in dsDNA, hard to detect. When dsDNA is separated, the strand containing it can have conformational change which can be demonstrated by electrophoresis  
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VNTR/STR (Variable nucleotide tandem repeats)   Small segments of DNA that are repeated numerous times  
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LINE and SINE   Long/Short interspread nucleotide elements. Long=6000-8000 and short= 100-300  
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Restriction Enzyme Fragment Length Polymorphism (RELP) Analysis   Sequence difference b/w individuals can often display itself by the fragment patterns that are generated  
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How many genotypes/phenotypes will 3 alleles generate?   6  
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Fragile X syndrome   Inherited mental retardation, CGG repeat at 5' UTR, FMR1 gene that encodes a RNA binding gene. Over 200 repeats no transcription of FMR1  
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What is the diff b/w normal, at risk & full blown for fragile X syndrome?   mRNA transcription  
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Name 3 diseases related to CAG expansion   Huntington, Kennedy and SC Ataxia  
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What expansion is Myotonic Dystrophy and Friederich related to?   Myo= CTG and Fri= GAA  
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Alpha Thalassemia   Autosomal recessive & related to deletions in alpha. 4 deletions results in anemia because hemoglobin precipitates and presents itself as inclusion bodies  
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Beta Thalassemia different mutations   Silent= G to A. Missense= Lysine. Non-sense=stop codon. Framshift= changes in all future codons resulting in early termination  
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Globin mutations   Intron partially remains and results in stop codon, or missing exon  
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Sickle Cell Anemia   A to T at codon 6= Valine for Glutamic acid. MstII missing so you get 1.35 after 2 cuts instead of 1.15 after 3 cuts. 7.6 kb fragment instead of 13kb fragment  
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ASOP (Allele Specific Oligonucleotide probes)   Designed to interrogate the presence of a single base change  
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How ASOP is used for alpha1-antitrypsin deficiency   G is normal, A is mutant, ASOP designed to distinguish G from A and you need to change the termperature of hybridization since they are both Purines  
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How is ASOP used for SCA   Use probe to distinguish if mutations are at IVSI-1, 6 or 110.  
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N39 and M39   Designed to make a distinction b/w a C to T change. Analyze PCR & amplify DNA against the probe or amplify DNA and blot it on paper  
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