Gene Expression III Word Scramble
|
Embed Code - If you would like this activity on your web page, copy the script below and paste it into your web page.
Normal Size Small Size show me how
Normal Size Small Size show me how
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 |
Created by:
Kahiranoel@gmail.com
Popular Biochemistry sets