Dynamic Mutations - Expanded Repeat Diseases Flashcards Preview

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Flashcards in Dynamic Mutations - Expanded Repeat Diseases Deck (28):
1

What is the difference between dynamic and static mutations?

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2

What is Kennedy Disease?

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3

CAG is a polyglutamine.

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4

What is Spinocerebellar ataxia type 1?

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5

Define Anticipation.

- Discredited by penrose in the 1950s as being a manifestation of ascertainment.

6

Does Spinocerebellar ataxia type 1 exhibit anticipation?

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7

What is the molecular basis for anticipation in polyglutamine diseases?

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8

How can ascetainment biases mimic anticipation?

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9

Myotonic dystrophy type 1 is a principle example of genetic anticipation, what are the phenotypes in relation to generations?

- Oldest, Middle and Youngest.

10

Basic genetics of Myotonic Dystrophy Type 1?

DM1.

11

What are the clinical features in adult patients?

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12

What is the molecular basis for DM1?

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13

What are the genes affected in mytonic dystrophy 1?

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14

Difference between type 1 and type 2 myotonic dystrophy (locus etc)

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15

What is the molecular basis of type 2 myotonic dystrophy?

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16

Is there a relationship between DM1 & DM2 loci genes?

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17

Evidence for RNA dominant mechanism for myotonic dystrophy?

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18

What is Friedreichs Ataxia?

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19

What is the genetics of Friedreichs Ataxia?

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20

What is the relationships between age of onset & copy number of shorter allele?

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21

What is the relationship between the severity & copy number of shorter allele?

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22

What is EPM1 and how long are EPM1 repeats?

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23

Example of SCA8?

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24

Is there a relationship between location of the expanded repeat within the gene and pathogenic pathway in Dynamic mutation diseases?

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25

What are the mode of inheritances for the different positions?

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26

What are the alternative pathways from genotype to phenotype?

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27

What is the common mutation mechanism in repeat expansion diseases?

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28

Define founder effects.

the reduced genetic diversity which results when a population is descended from a small number of colonizing ancestors.