Genotyping technology

Question 1

what is Hapmap Project

Answer 1

catalouge of human genetic variations

Question 2

Copy number variation

Answer 2

response to therapy depends on the different number of haploids

Question 3

what is association study

Answer 3

finding the correlation btwn disease and genetic variation

Question 4

requirements to carry out an association study

Answer 4

1. large sample size
2. defining phenotype to observe
3. defining study population
4. defining on whole-genome scans

Question 5

What is whole genome sequencing

Answer 5

analyses the entire genome to identify all genes involved in disease without bias
replication occurs in subsets

Question 6

TaqMan SNP genotyping assay

Answer 6

For each SNP, probes are used, one complimentary to wild type and the rest complimentary to variant allele. During PCR annealing, the SNPs will hybridize to the probe. during PCR extension, reporter and quencher dyes on TaqMan probe are released, resulting in fluorescence. Fluorescence is measured and the resulting ratio determines the SNP within the genome sequence.

Question 7

Microarray analysis mechanism

Answer 7

lab tool used to detect multiple genes at a single time. there is a plate with holes and each hole corresponds to a gene. the experimental DNA and reference DNA used has fluorescence labels. after hybridisation, the fluorescence level is read and the hole will show the higher level of allele present.