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Gene Expression III

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
Popular Biochemistry sets




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