Week 6- Complex Disease & Pharmacology Flashcards
What is a Mendelian trait?
A trait caused by one gene, with inheritance following Mendel’s principles (if two homozygous [one dom, one recessive] are crossed all offspring will be heterozygous)
What is a complex trait?
Caused by more than one gene
What are single nucleotide polymorphisms?
Single variations in the DNA sequence
What is a risk allele?
An allele more frequent in unhealthy individuals
What are genome wide association studies?
Studies that compare SNPs (single nucleotide polymorphisms) to analyse complex disease
What is heritability?
How much a phenotype is due to genes vs environment
How does missing heritability work?
Heritability from GWAs may be less than actual heritability, creating a gap
What may be some reasons for missing heritability?
Low frequency variants w/ small effects
Rare variant SNPs (risk alleles occurs few times in a population)
Diagnosis is incorrect
What is pharmacogenetics?
The study of variability in responses to a drug due to genetic differences (genetic factors are involved in drug metabolism and response)
