polygenic disorders Flashcards

1
Q

liability threshold

A

the more affected alleles a pt has the more likely they will be to develop the disease

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2
Q

twin studies

A

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

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3
Q

heritability

A

== 2 (concordance of monozygotic- concordance of dizygotic)

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4
Q

adoption studies

A

see if the kid of an affected individual has the same issues in a different environment (adoption)O

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5
Q

common varient hypothesis

A

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

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6
Q

linkage vs association studies

A

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)

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