Trinucleotide repeat disorders Flashcards
1
Q
List the 4 trinucleotide repeat disorders
A
Fragile X Huntington’s Mytonic dystrophy Friedreich ataxia
2
Q
(CTG)n
A
Myotonic dystrophy
3
Q
(CGG)n
A
Fragile X
4
Q
Mode of inheritance: Fragile X syndrome
A
X-linked
Trinucleotide repeat
5
Q
What causes myotonic dystrophy?
A
Expansion of DMPK1 gene = abnormal expression of myotonin protein kinase
6
Q
(CAG)n
A
Huntington’s
7
Q
Fragile X syndrome is 2nd most common cause of:
A
Inherited intellectual disability
(after Downs)
8
Q
Muscle wasting + frontal balding + cataracts + testicular atrophy
A
Myotonic dystrophy (expansion of CTG in DMPK gene)
9
Q
(GAA)n
A
Friedrich ataxia
10
Q
Marcoorchidism + long face + large jaw + everted ears + autism + MVP
A
Fragile X syndrome
(Xtra large ears, balls, jaw)
11
Q
A
