L16 Genetic Analysis of Human Disease Flashcards
VNTR
Variable number tandem repeats
Microsatellites
Short (~5nt or less) repeats, less than 100x
Minisatellites
10-100 nt repeats, high variability and mutation rate
The telomere sequence is an example of a…
Minisatellite
DNA-17 profiling, used in the UK uses…
STRs 3-7bp in length
DNA fingerprinting is used in…
Paternity testing
SNPs (‘snips’) or single nucleotide polymorphisms are single base differences which occur in about…
1 in every 300 nucleotides
SNPs are useful for associating genes with…
A particular phenotype
RFLPs are…
Restriction fragment length polymorphisms
Prior to PCR, DNA fingerprinting used…
RFLP analysis
CpG islands are often associated with…
Promoters of genes (70% of human genes lie next to a CpG island)
SNPs may be used in a ? to correlate a haplotype with particular phenotypes
GWAS (Genome-wide association study)
The information gained from genome-wide association studies (6)…
✅ informs patient care & screening
✅ may help identify genes & thus pathways that lead to certain phenotypes
✅ may show the history of human populations and their migration
🚫 may pose a risk if obtained by insurance companies
🚫may be used to create ‘designer babies’
SNP association data is useful, but correlation…
Doesn’t equal CAUSATION!
Haplotype
A set of linked polymorphic markers
Understanding haplotypes of individuals can allow the association of genetic variations with…
Disease
Information from haplotypes may be useful clinically…
in determining the likelihood of disease or side effects from medication, for example
CpG islands were useful…
Before the advent of high frequency DNA sequencing
