Fragile X Question Flashcards
1
Q
Fragile x gene
A
FMR1
2
Q
FXS prevalence
A
1 in 2000 makes
1 in 4000 females
3
Q
FXS repeat
A
CGG
4
Q
Methods of diagnosing Fragile X
A
Sizing PCR
Southern blotting
FragilEase PCE
Amplidex + methylation analysis
5
Q
Enzymes in southern blotting
A
Ecor1
Pst1
6
Q
Amplidex methylation enzymes
A
Hpall to cut -> will not cut methylated
Fam and Hex fragments
Fam present wherever repeats
Hex only if methylated