Genetics Flashcards
1
Q
what chromosome is the huntingtons gene found on
A
chromosome 4
2
Q
what genetic mutation leads to huntingtons
A
large trinucleotide expansion of CAG coding for glutamine, or sometimes CCG
3
Q
CCG is associated with wjhat in huntingtons
A
later presentation
4
Q
true/false - sizer of trinucleotide expansion determines onset
A
true - larger repeats have earlier presentation
5
Q
what is anticipation
A
CAG trinucleotide expansion becomes bigger as it is passed down generations
leads to earlier presentation
6
Q
symptoms of HD
A
depression, low mood, anxiety psychosis blunt affect aggression suicidal impaired executive function short/long term memory deficit rigidity chorea impaired chew/swallow/speech gait disturbance writhing
