inheritance Flashcards
1
Q
benefits of understanding genetic variation
A
decreased parental guilt less anxiety for families family planning more treatment options better clinical management families can gain access to resources and support
2
Q
filtering process
A
identify total variants mode of inheritance population frequency functional effect gene affected?
3
Q
genetics research cycle
A
patients and families phenotype description identify relevant genes identify the genes responsible diagnose, manage, treat
4
Q
ethical considerations
A
learn more than just yourself
who can access knowledge?
incidental findings - things that you didn’t seek to know.
who/how to determine vulnerable populations - those who can’t consent themselves?
5
Q
example recessive disease
A
PKU
6
Q
dominant inheritance disease e.g.
A
huntingtons
7
Q
incomplete dominance disease e.g.
A
sickle-cell anemia
8
Q
multiple allele e.g.
A
blood type
9
Q
complex inheritance e.g.
A
skin colour
10
Q
what is complex inheritence
A
1 phenotype = many genotypes
1 genotype - many possible phenotypes
environmental impact not understood
depends on multiple genes
