Genetics Flashcards
1
Q
what type of inheritance is DMD
A
x-linked recessive
2
Q
what type of inheritance is Huntington disease
A
autosomal dominant
3
Q
what is signs/symptoms in DMD
A
- delay in motor development
- pelvic and shoulder girdle weakness
- calf hypertrophy
- Gower’s sign
- toe walking
4
Q
what causes DMD
A
dystrophin deficiency
5
Q
what investigations are done for DMD
A
serum CK (very elevated) muscle biopsy
6
Q
features of Huntington disease
A
dementia
involuntary movements
7
Q
what pathological signs are seen in Huntington’s
A
- caudate atrophy
- putamen atrophy
- loss of GABAergic neurons of the basal ganglia
- enlargement of the frontal horns of the lateral ventricles
8
Q
what does the Huntington gene code for
A
CAG (which codes for glutamine)
9
Q
what is the pathology of alzheimer disease
A
Loss of cortical neurones Neurofibrillary tangles (intracellular) Senile plaques (extracellular)
10
Q
what are senile plaques composed of
A
amyloid β protein
also called amyloid plaques
11
Q
what are the mutations linked with Alzheimer disease
A
APP mutations (chromosome 21) Presenilin 1 (chromosome 14) Presenilin 2 (chromosome 1)
12
Q
what ApoE allele predisposes to Alzheimer disease
A
e4
