Term
|
Definition
| Change in chromosome structure, most don't survive, low prevalence |
|
|
Term
| Multifactorial Genetic Disease |
|
Definition
| Multiple genes contribute to risk of disease along with environmental factors, most prevalent. |
|
|
Term
|
Definition
| p^2+2pq+q^2 = 1, 2pq becomes 2q for low frequency disease |
|
|
Term
| Hardy Weinberg Assumptions (5 things) |
|
Definition
| Large Population, Random mating, Low Mutation Rate, Little Selection, No Gene flow/migration |
|
|
Term
| The rarer the disorder the _____ the carrier to homozygote ratio |
|
Definition
|
|
Term
| Coefficient of Relationship; Parent/Child, Siblings, Uncle/Neice, First Cousns and Second Cousins |
|
Definition
|
|
Term
| Nonrandom Mating (3 types) |
|
Definition
Affects gene frequency
Stratification; differences in allele frequency in different populations
Cosanguinity; increases carrier mating frequency
Assortive Mating; increases allel frequency due to likelihood of mating; deaf community |
|
|
Term
Relationship Coefficients
A) Parent/Child
B) Siblings
C) Uncle-Neice
D) First Cousins
E) Second Cousins |
|
Definition
A) 1/2
B) 1/2
C) 1/4
D) 1/8
E) 1/32 |
|
|
Term
|
Definition
| Example of founder effect in Amish |
|
|
Term
|
Definition
| 0 means you have no offspring, genetic lethal, S=1, all alleles lost |
|
|
Term
| Examples of founder effect |
|
Definition
| HD in venezuela, thalassemia in medeteranian |
|
|
Term
| Example of Multifact diseases |
|
Definition
| Hirschprung, Cleft, Spinobifida |
|
|
Term
|
Definition
| Twin pair to see if disease are truly genetic |
|
|
Term
|
Definition
| Men have lower threshold so less liability because since it takes less they usually have less of the genetic contribution |
|
|
Term
| Risk increases with number of _____ relatives |
|
Definition
|
|
