LHON Flashcards
1
Q
3 mutations
A
G3460A
G11778A
T14484C
2
Q
Methods of detection
A
Simple pcr x3
Multiplex pcr
Arms pcr
Sybr green
3
Q
Simple pcr for G3460A
A
Hsp921 enzymes
Loss of site
1 product in mutated, 2 in normal
4
Q
Simple pcr for G11778A
A
MaeIII enzyme
Gain of site
2 in normal, 3 products
3 in mutated, 4 products
5
Q
Simple pcr for T14484C
A
DpnII enzyme
Loss of site, 2 in normal, 3 products
1 in mutated, 2 products
