Lecture 5 Flashcards
1
Q
What are 4 requirements for SNP genotyping? What method covers all of these?
A
Needs to be:
- Accurate
- Fast
- Cheap
- Massively parallel - multiplexable
Microarrays
2
Q
Give 3 methods for allele detection
A
- Mass (Electrophoresis/Mass Spectrometry)
- Fluorescent signalling (Illumina)
- Chemiluminescence (Pyrosequencing)
2
Q
How can genotyping efficiency be increased?
A
Haplotype tagging; identifying common haplotypes showing “tagging” SNPs
3
Q
Give 4 methods for allele discrimination
A
- Hybridisation (ASO/Microarrays)
- Extension (ASPCR/SBE)
- Ligation (MLPA)
- Cleavage (Invader assay)
4
Q
What does GWAS (Genome Wide Association Studies) between disease status and particular genetic variants allow?
A
Disease gene mapping
5
Q
What is allele discrimination?
A
Distinguishing between 2 nucleotides
6
Q
What is important to know about biallelic (ie heterozygous at a locus) SNPs?
A
They’re not very informative
8
Q
How do you confirm any identified variants?
A
Sequencing
9
Q
What is allele detection?
A
The alleles presence or absence
