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Flashcards in Genetics of CNS disease Deck (17)
1

What is the inheritence pattern of duchenne muscular dystrophy?

X linked recessive

2

What is the genetic problem in duchenne muscular dystrophy?

Large scale deletions in the dystrophin gene (70%)
Point mutations, small insertions and deletions in the dystrophin gene (30%)

3

What gene is faulty is duchenne muscular dystrophy?

Dystophin

4

What is the difference at a molecular level between duchenne muscular dystrophy and becker muscular dystrophy?

In DMD the dystophin protein is absent in BMD it is abnormal

5

What 4 tests are useful in the diagnosis of duchenne muscular dystrophy?

Serum creatanine kinase
EMG
Muscle biopsy
Molecular genetic testing

6

What is the inheritence pattern of huntingtons disease?

Autosomal dominant

7

What is the exact genetic problem in huntingtons disease?

Excessive numbers of CAG repeats on chromosome 4

8

With regard to huntingtons disease; what protein does CAG code for?

Glutamine

9

With regard to huntingtons disease; what chromosome is the abnormality found on?

Chromosome 4

10

What chromosome is related to the amyloid beta protein plaques seen in alzheimers disease?

Chromosome 21

11

What deposits are found in alzheimers disease?

Amyloid beta protein

12

Approximately what % of alzheimers disease is due to an autosomal dominant genetic trait?

5 - 10%

13

What other genetic condition predisposes someone to alzheimers in the 3rd or 4th decade?

Downs syndrome

14

What gene is amyloid beta protein (seen in alzheimers disease) a fragment of?

The APP (Amyloid precursor protein) gene on chromosome 21

15

What is most common gene where there is a mutation leading to alzheimers disease?

APP (Chromosome 21)

16

Name 3 genes where there is known mutations that can lead to alzheimers disease and are passed on in an autosomal dominant fashion?

APP (Chromosome 21)
Presenilin 1 (Chromosome 14)
Presenelin 2 (Chromosome 1)

17

What is the risk of MS for someone who has a first degree relative with the condition?

3%