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9 Cards in this Set

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Susceptibility genes =
A gene whose mutation may increase the genetic liability of a person with regard to the development of a disease phenotype.
May be neither necessary nor sufficient for the development of the phenotype in that individual.
What 5 things make a disease "genetic"?
Familial clustering
Clustering in populations that share common ancestry
Greater risk of disease in monozygotic vs dizygotic twins
Presence in a greater population of sibs of affected individuals
Present in a greater proportion of 1st degree relatives of affected individuals
What 2 methods can you use to determine if a disease is genetic?
Define them.
Concordance = If both twins of a pair are affected, they are said to be concordant. If only one is affected, they are said to be discordant.
Lamda = Measure of familial clustering. Describes the risk of a relative an affected person compared with the population risk.
What is the equation for concordance and what does it mean?
C/C +D
C= # of pairs in concordance
D= # of pairs in disconcordance
What is the equation for Lamda?
Incidence in family/Incidence in populations
For simple Mendelian genetic disorders, Candidate gene analysis or Linkage analysis are used with polymorphic markers and large families. What is used in complex genetic diseases?
If you have a large family to work with, you use association analysis
If you have small families with siblings, you can use polymorphic markers and analyze Affected Sib Pairs.
What is the goal in doing Affected Sib pairs analysis?
To find a linkage between the phenotype being studies and a chromosomal region.
You do "identity by descent" to find out how often siblings of an affected individual share a particular allele compared to what would be expected by chance.
When is linkage disequilibrium used?
In diseases of ethnic clustering such as the ashkenazim population and crohn's disease.
What is CARD-15?
Candidate gene in Crohns disease
Hypothesized to act as an intracellular receptor for bacterial antigens.

CARD15 may be just one of many susceptibility genes for CD and important susceptibility genes may differ in different populations.