L7-Variation Flashcards
1
Q
What type of mutation is typically ‘benign’?
A
Polymorphism
2
Q
Effect of Advanced Parental Age on Mutations…Male?Female?
A
Male-Achondroplasia….Female-Down Syndrome
3
Q
What was our example of a silent mutation causing disease? What type of inheritance mechanism?
A
Progeria….de novo dominant
4
Q
What is associated with increased severity and/or decreased age at onset in successive generations and reflects increased number of repeats as passed from generation to generation???
A
ANTICIPATION
5
Q
What is the repeat codon in Huntington’s Disease? What is the average # of repeats to be considered the threshold?
A
40 repeats
