Modes of Inheritance Flashcards
Does Mendelian Inheritance have high or low penetrance?
high
What type of inheritance are Autosomal dominant and recessive and X-linked?
Mendelian
In autosomal dominant, is the disease seen in 1 or all generations?
all
In autosomal dominant inheritance, what is the risk of the child being affected if a parent is?
50%
Are males and females equally affected in autosomal dominant inheritance?
Yes
What is halpoinsufficiency?
only having 1 working copy is not enugh
What does dominant negative mean?
abnormal protein interfaces with normal protein
When does skewing of X activation occur?
when 1 X chromosomes carries a lethal mutation in 1 XIST gene (occurs by chance)
How many generations are usually affected in autosomal recessive inheritance?
only 1
What is the risk of a child being affected in autosomal recessive inheritance if a parent is a carrier?
1 in 4
When is there an increased likelihood of autosomal recessive inheritance?
incest
In X-linked recessive inheritance, does the female show the mutation if she carries it?
No
If a female carrier has children, how many of the males will be affected and how many females will be carriers?
half for both
If an affected male has children, how many males will be affected and how many females will be carriers?
no males will be affected
all females will be carriers
Why may a female show mild features of an X-linked recessive disease?
1 X chromosome is active (out of 2)
