Genetic Mutations

RUSSELLCREW

New member
My Cf baby seems to have all the genetic mutations linked to the worst type of CF. Does anyone understand what each of the mutations mean?

Here is the list:
R553X
G551D
delI507
delF508
1717-1G>A
G542X
R560T
3120+1G>A

And the list goes on and on....

I am so confused:<img src="i/expressions/brokenheart.gif" border="0">

Thank you
Christina
Mom of Girls
Alleysen
Karsyn
Seazyn and
Marahsyn our 9 mth old CF baby
 

RUSSELLCREW

New member
My Cf baby seems to have all the genetic mutations linked to the worst type of CF. Does anyone understand what each of the mutations mean?

Here is the list:
R553X
G551D
delI507
delF508
1717-1G>A
G542X
R560T
3120+1G>A

And the list goes on and on....

I am so confused:<img src="i/expressions/brokenheart.gif" border="0">

Thank you
Christina
Mom of Girls
Alleysen
Karsyn
Seazyn and
Marahsyn our 9 mth old CF baby
 

RUSSELLCREW

New member
My Cf baby seems to have all the genetic mutations linked to the worst type of CF. Does anyone understand what each of the mutations mean?

Here is the list:
R553X
G551D
delI507
delF508
1717-1G>A
G542X
R560T
3120+1G>A

And the list goes on and on....

I am so confused:<img src="i/expressions/brokenheart.gif" border="0">

Thank you
Christina
Mom of Girls
Alleysen
Karsyn
Seazyn and
Marahsyn our 9 mth old CF baby
 

Emily65Roses

New member
There is no way she has ALL of those genes. Each CFer has <b>two</b> CF genes, one from mom and one from dad. Figure out which ones she's got and we'll do our best to tell you what information there is out there about the specific ones.
 

Emily65Roses

New member
There is no way she has ALL of those genes. Each CFer has <b>two</b> CF genes, one from mom and one from dad. Figure out which ones she's got and we'll do our best to tell you what information there is out there about the specific ones.
 

Emily65Roses

New member
There is no way she has ALL of those genes. Each CFer has <b>two</b> CF genes, one from mom and one from dad. Figure out which ones she's got and we'll do our best to tell you what information there is out there about the specific ones.
 

NoExcuses

New member
#1 Different genes aren't necessarily linked to different severities of CF. There are many people with the exact same genetic mutations with drastically different clinical outcomes.

#2 Emily is right. There is no way she has all those mutations....
 

NoExcuses

New member
#1 Different genes aren't necessarily linked to different severities of CF. There are many people with the exact same genetic mutations with drastically different clinical outcomes.

#2 Emily is right. There is no way she has all those mutations....
 

NoExcuses

New member
#1 Different genes aren't necessarily linked to different severities of CF. There are many people with the exact same genetic mutations with drastically different clinical outcomes.

#2 Emily is right. There is no way she has all those mutations....
 
T

tammykrumrey

Guest
Christina,
You are probably reading a list of the mutations that she was tested for. Someplace on the test it has to show you which mutations she tested positive for. I'm sorry you thought she had all those! How scary for you.
As already said, she can only have two.
 
T

tammykrumrey

Guest
Christina,
You are probably reading a list of the mutations that she was tested for. Someplace on the test it has to show you which mutations she tested positive for. I'm sorry you thought she had all those! How scary for you.
As already said, she can only have two.
 
T

tammykrumrey

Guest
Christina,
You are probably reading a list of the mutations that she was tested for. Someplace on the test it has to show you which mutations she tested positive for. I'm sorry you thought she had all those! How scary for you.
As already said, she can only have two.
 

StevenKeiles

New member
Christina

Tammy is right, that is the list of the mutations that she was tested for. Usually just above that list is the actually results, you can also look for the place where they have Interpretation, that is where the results should be.

Steve
 

StevenKeiles

New member
Christina

Tammy is right, that is the list of the mutations that she was tested for. Usually just above that list is the actually results, you can also look for the place where they have Interpretation, that is where the results should be.

Steve
 
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