Fragile X Question Flashcards

1
Q

Fragile x gene

A

FMR1

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

FXS prevalence

A

1 in 2000 makes
1 in 4000 females

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

FXS repeat

A

CGG

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Methods of diagnosing Fragile X

A

Sizing PCR
Southern blotting
FragilEase PCE
Amplidex + methylation analysis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Enzymes in southern blotting

A

Ecor1
Pst1

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly