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Gene Expression III
| 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 |
| 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 |
| VNTR/STR (Variable nucleotide tandem repeats) | Small segments of DNA that are repeated numerous times |
| LINE and SINE | Long/Short interspread nucleotide elements. Long=6000-8000 and short= 100-300 |
| Restriction Enzyme Fragment Length Polymorphism (RELP) Analysis | Sequence difference b/w individuals can often display itself by the fragment patterns that are generated |
| How many genotypes/phenotypes will 3 alleles generate? | 6 |
| 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 |
| What is the diff b/w normal, at risk & full blown for fragile X syndrome? | mRNA transcription |
| Name 3 diseases related to CAG expansion | Huntington, Kennedy and SC Ataxia |
| What expansion is Myotonic Dystrophy and Friederich related to? | Myo= CTG and Fri= GAA |
| Alpha Thalassemia | Autosomal recessive & related to deletions in alpha. 4 deletions results in anemia because hemoglobin precipitates and presents itself as inclusion bodies |
| Beta Thalassemia different mutations | Silent= G to A. Missense= Lysine. Non-sense=stop codon. Framshift= changes in all future codons resulting in early termination |
| Globin mutations | Intron partially remains and results in stop codon, or missing exon |
| 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 |
| ASOP (Allele Specific Oligonucleotide probes) | Designed to interrogate the presence of a single base change |
| 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 |
| How is ASOP used for SCA | Use probe to distinguish if mutations are at IVSI-1, 6 or 110. |
| 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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