Modes of inheritance Flashcards
Type of pattern in autosomal dominant?
Vertical pattern.
What are the ways that cause a certain disorder to be dominant?
Gain of function, dominant negative effect and insufficient.
What is a gain of function mutation?
Gene now makes a protein with a new function.
What is a dominant negative mutation?
The mutant form interferes with the activity of proteins it binds to.
What is an insufficient mutation?
Mutant in one gene results in half the amount of protein which is not enough for normal function.
What is the most common kind of mutation in autosomal dominant conditions?
Gain of function.
What is the most common kind of mutation in autosomal recessive conditions?
Loss of function.
Type of pattern in autosomal recessive?
Horizontal pattern.
Which sex chromosome contains more genes?
X-chromosome.
A man has an x linked recessive disorder, what will the genotype of the daughter be?
Carrier.
A man has an x linked dominant disorder, will the daughter have the disorder?
Yes.
What are the characteristics of y linked disorders?
Affects only males. All sons of affected father. Vertical degree of pattern.
Mitochondrial inherited disorder characteristics?
All mitochondrial DNA is inherited from the mother. Children of affected father are never affected but from mother they may be affected. Vertical degree pattern.
How are mitochondrial disorders developed?
Multiple copies of genome; some normal, some mutant. If mutant genome is above a certain threshold then it is expressed.
What causes mitochondrial disease variability?
Number of mutant mitochondria in cell. Develop with age due to accumulation of mutant mitochondria.
