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
