Genetic Disorders Flashcards
1
Q
What do x linked traits always show up in
A
Almost always show up in males whether dominant or ressesive becuase males only have one X chromosome
2
Q
What is penetrance
A
Proprotion of indvs that have a genotype and express the associated phenotype
3
Q
What is polygenic inheritence
A
Occurs w one trait is controlled by 2 or more genes
4
Q
What is pleiotropism (+ ex)
A
- One gene can influence 2 or more seemingly inrelated traits
- Phenylketonuria
5
Q
Types of substitution mutations
A
silent- codes for same a.a
missense- codes fo dif a. a
nosense- codes for stop codon
6
Q
what is aminocentesis (+risk)
A
-ambiotic fluid withdrawn
.5% risk of spontaneous abortion
7
Q
What is chorionic villus (+risk)
A
Catheter is guided + fetal tissue sucked
1-2% risk of abortion
