polygenic disorders Flashcards
liability threshold
the more affected alleles a pt has the more likely they will be to develop the disease
twin studies
use to determine environment vs genetic
twins are 1/100 births
Concordant: twins share the trait
discordant: twins dont share the trait
Correlation coefficient -1->1
heritability
== 2 (concordance of monozygotic- concordance of dizygotic)
adoption studies
see if the kid of an affected individual has the same issues in a different environment (adoption)O
common varient hypothesis
common disease- common varient (CDCV): common disease causing (but low penetrance alleles or variants): will be found in all humans which manifest in a given disease
each varient at each gene influencing a complex disease will have a small effect on the disease phenotype
linkage vs association studies
linkage look for relationship between inheritance of genetic marker and disease or trait within a family. the markers could be different for different families
association : look for a statistical relationship between the presence of a marker and a disease between families (in a larger population)