Flashcards in Dynamic Mutations - Expanded Repeat Diseases Deck (28):
What is the difference between dynamic and static mutations?
What is Kennedy Disease?
CAG is a polyglutamine.
What is Spinocerebellar ataxia type 1?
- Discredited by penrose in the 1950s as being a manifestation of ascertainment.
Does Spinocerebellar ataxia type 1 exhibit anticipation?
What is the molecular basis for anticipation in polyglutamine diseases?
How can ascetainment biases mimic anticipation?
Myotonic dystrophy type 1 is a principle example of genetic anticipation, what are the phenotypes in relation to generations?
- Oldest, Middle and Youngest.
Basic genetics of Myotonic Dystrophy Type 1?
What are the clinical features in adult patients?
What is the molecular basis for DM1?
What are the genes affected in mytonic dystrophy 1?
Difference between type 1 and type 2 myotonic dystrophy (locus etc)
What is the molecular basis of type 2 myotonic dystrophy?
Is there a relationship between DM1 & DM2 loci genes?
Evidence for RNA dominant mechanism for myotonic dystrophy?
What is Friedreichs Ataxia?
What is the genetics of Friedreichs Ataxia?
What is the relationships between age of onset & copy number of shorter allele?
What is the relationship between the severity & copy number of shorter allele?
What is EPM1 and how long are EPM1 repeats?
Example of SCA8?
Is there a relationship between location of the expanded repeat within the gene and pathogenic pathway in Dynamic mutation diseases?
What are the mode of inheritances for the different positions?
What are the alternative pathways from genotype to phenotype?
What is the common mutation mechanism in repeat expansion diseases?