Shared Flashcard Set

Details

Genetics
JHSPH09
18
Medical
Post-Graduate
12/23/2009

Additional Medical Flashcards

 


 

Cards

Term
Types of studies used to determine genetic component of diseases
Definition
1. Family studies
2. Twin studies
3. Adoption studies
Term
Type of study used to determine transmission
Definition
Segregation study
Term
Type of study to locate corresponding genes
Definition
1. Linkage
2. Association
Term
Type of study to determine contribution to disease
Definition
Epidemiologic
Term
What is Mendel's 1st law?
Definition
Law of segregation. When a gamete is formed, for any pair of characteristics there is only 1 gene in the gamete
Term
What is Mendel's 2nd law?
Definition
Law of independent assortment. Alleles of different genes assort independently of one another during gamete formation
Term
What are violations to the Hardy-Weinberg law?
Definition
1. Non random mating
2. Mutation
3. Selection
4. Migration
5. Genetic drift
Term
What is the premise of family studies?
Definition
That trait resemblances should increase w/increasing degree of genetic relatedness
Term
What is concordance?
Definition
The % agreement in trait values among pairs of relatives
Term
What is pairwise concordance?
Definition
The # of concordants/ total # of pairs
Term
What is probandwise concordance?
Definition
# probands in concordant pairs/#probands in concordant pairs + probands in discordant pairs
Term
Which type of of concordance is preferred?
Definition
Probandwise since it provides an estimate of risk
Term
What is the premise of twin studies?
Definition
Any difference in a trait between the two types of twins must be due to genetic factors
Term
What are limitations to twin studies?
Definition
1. Placentation
2. Diff. parental treatment
3. Diff. environmental exposures
Term
What is heritability?
Definition
Proportion of the variance in the phenotype that is due to genetic differences among individuals
Term
What is the premise of adoption studies?
Definition
A natural experiment to disentangle genetic & environmental sources of familial resemblances
Term
What is the adoptees study method?
Definition
Sample affected and unaffected parents and compare rates in adopted away children
Term
What is the adoptees family method?
Definition
Sample affected and unaffected adoptees and compare rates in biological and adoptive families
Supporting users have an ad free experience!