Reading...
Play button
Play button
Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
18 Cards in this Set
- Front
- Back
|
What is proband?
|
A family member who first brings the family history to attention
|
|
|
What is sibship
|
brothers and sisters in a family
|
|
|
First degree relatives
|
parents, sibs, and offspring of proband
|
|
|
What do recessive genes tend to code for?
|
enzymes
|
|
|
What is heterogeneity?
|
Seen in both recessive and dominant disorders. Ex: phenotypic heterogeneity - disease looks different in different people
|
|
|
what is phenotypic heterogeneity?
|
Same disease, looks different in different people
|
|
|
What is genetic heterogeneity?
|
Different mutations cause similar phenotype
|
|
|
What is allelic heterogeneity?
|
different mutations at same locus
|
|
|
What is locus heterogeneity?
|
Mutations at different loci producing similar phenotype.
|
|
|
What is penetrance?
|
is an all or none concept. Either the individual shows the disease or not.
|
|
|
What do dominant disorders tend to code for?
|
Structural proteins. One good allele is NOT good enough.
|
|
|
Are all autosomal dominant disorders worse when homozygotes?
|
No. Huntington disease is the ONLY exception. usually though, they are.
|
|
|
Does mytonic dystrophy have a variable expression?
|
Yes
|
|
|
What is the easiest way to diagnose Marfan syndrome?
|
In a clenched first, the thumb sticks out the end.
|
|
|
What are some common autosomal recessive disorders?
|
cystic fibrosis, sickle cell disease, phenylketonuria, tay-sachs disease
|
|
|
what is the risk of recurrence of autosomal recessive diseases?
|
1 in 4 for each subsequent child.
|
|
|
What is the hardy-weinberg equilibrium?
|
p+q = 1
--or-- p2 + 2pq + q2 = 1 |
|
|
What are 4 assumptions that make the H-W equilibrium true?
|
Matings are random and pop is large, mutation rate is constant, there is no selection of a particular phenotype, the pop is not influence by migration
|
