13-Population Genetics Flashcards
What is meant by congenital?
Present at birth but not necessarily genetic
Give some examples of congenital diseases?
Heart defects, neural tube defects and down syndrome
What is meant by diagnostic test?
Aid making diagnosis or confirming
What is meant by susceptibility?
The likelihood of suffering from an adverse affect or diseases when exposed to a pathogen
Predictive
What is required for a good diagnostic test?
Accurate results No false negative results Quick and inexpensive Clearly indicate the disease/phenotype Screens patients with disease Low false positive rate
What is required for a good susceptibility test?
Accurate results
No false negative results
Quick inexpensive and test many variants in a large number of individuals
Identify susceptibility to disease or drug response
Low false positive rate
Who is tested for a diagnostic test?
small number tested for a given phenotype
Who is tested for a susceptibility?
More likely to be a population based on screening tool for many individuals
What is tested during diagnostic and susceptibility tests?
Chromosomes
Specific mutations
Specific gene
Panel of genes and whole genome may take longer
What has led to the genetic revolution?
Recent advances in DNA sequencing and ability to get whole genome sequenced
What does NIPT stand for?
Non- invasive prenatal screening
What is NIPT used to detect?
Downs syndrome, edwards syndrome, patau syndrome & turner syndrome
Define why population ancestry may be important?
The frequency of genetic variation will vary between populations of different ancestry
