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Flashcards in Trinucleotide repeat disorders Deck (11):
1

List the 4 trinucleotide repeat disorders

Fragile X Huntington's Mytonic dystrophy Friedreich ataxia

2

(CTG)n

Myotonic dystrophy

3

(CGG)n

Fragile X

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Mode of inheritance: Fragile X syndrome

X-linked

Trinucleotide repeat

5

What causes myotonic dystrophy?

Expansion of DMPK1 gene = abnormal expression of myotonin protein kinase

6

(CAG)n

Huntington's

7

Fragile X syndrome is 2nd most common cause of:

Inherited intellectual disability

(after Downs)

8

Muscle wasting + frontal balding + cataracts + testicular atrophy

Myotonic dystrophy (expansion of CTG in DMPK gene)

9

(GAA)n

Friedrich ataxia

10

Marcoorchidism + long face + large jaw + everted ears + autism + MVP

Fragile X syndrome

 

(Xtra large ears, balls, jaw)

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