Things I don't know Flashcards
1
Q
What are the kinds of genetic disorders discussed?
A
Patau syndrome: trisomy 13
Edwards syndrome: trisomy 18
Down syndrome: trisomy 21
Turner’s syndrome: XO
Klinefelter’s syndrome: XXY
2
Q
do plants or animals tolerate aneuploidy better? How does it impact them?
A
- plants tolerate it better: leads to a change in phenotype or reduced fertility
3
Q
What is the first kind of spontaneous mutation type?
A
- tautomeric shifts: proton jumps around
- can cause rare forms of base to bind with an alternate
- anomalous base pairing arrangements: eg when rare form of C binds with T
4
Q
What are the 3 kinds of next generation sequencing? What kind of synthesis do they use?
A
- Pyrosequencing
- illumina *
- ion torrent
- all use DNA synthesis (to amplify lol)
5
Q
How are microsatellites visualized?
A
- PCR based amplification
- visualized using fluorescent probes in a multiplex analysis
- good for small amounts of DNA then, but prone to contamination
6
Q
What are some causes of STR mutations?
A
- trinucelotide repeats
- in normal people, not many
- in affected people, way too many repeats leads to production of abnormal proteins
7
Q
What is used to visualize fragments cut by Restriction endonuclease sites?
A
- it uses gel electrophoresis (agar) and EtBr to visualize the size
- using a standard curve the size of unknown bases can be extrapolated
8
Q
How is qPCR visualized?
A
- uses SYBR green fluorescence to glow after each round; detected by a PCR machine
9
Q
How is sanger dideoxy sequencing visualized?
A
- uses a capillary electrophoresis machine with polyacrylamide gel (has urea; high resolution)
10
Q
What are the PCR product sizes normally?
A
<2kb-40kb
- normalyl <2 because larger primers = less product yield
11
Q
A
