Cystic Fibrosis genes

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cysticfibrosisgirl

New member
Ok
I have cystic fibrosis and I just got my gene reports in the mail and I need some help understanding them. I have had different gene tests at different labs. One was here in MN where I live. and the other was done CA. The 30 gene pull I had done here in MN said that I have an F508 cystic fibrosis gene.

Watch would sound right due to how ill I have been with my CF. I had a 900 pull done again and no copy of a 2th F508 where found. But I have one F508 and not two. But then is says in my gene report that I have a M470V? So I put that in to my computer and found that it is a Cystic fibrosis gene. So is it possable that the F508 and the M470V are the CF genes I have? and that are making me ill with CF? or could it be that I may have 2 F508 genes and that test just did not pick up the other F508.

Thanks,

~Anika~ Cystic Fibrosis/B-caipa CFRD
 
C

cysticfibrosisgirl

New member
Ok
I have cystic fibrosis and I just got my gene reports in the mail and I need some help understanding them. I have had different gene tests at different labs. One was here in MN where I live. and the other was done CA. The 30 gene pull I had done here in MN said that I have an F508 cystic fibrosis gene.

Watch would sound right due to how ill I have been with my CF. I had a 900 pull done again and no copy of a 2th F508 where found. But I have one F508 and not two. But then is says in my gene report that I have a M470V? So I put that in to my computer and found that it is a Cystic fibrosis gene. So is it possable that the F508 and the M470V are the CF genes I have? and that are making me ill with CF? or could it be that I may have 2 F508 genes and that test just did not pick up the other F508.

Thanks,

~Anika~ Cystic Fibrosis/B-caipa CFRD
 
C

cysticfibrosisgirl

New member
Ok
I have cystic fibrosis and I just got my gene reports in the mail and I need some help understanding them. I have had different gene tests at different labs. One was here in MN where I live. and the other was done CA. The 30 gene pull I had done here in MN said that I have an F508 cystic fibrosis gene.

Watch would sound right due to how ill I have been with my CF. I had a 900 pull done again and no copy of a 2th F508 where found. But I have one F508 and not two. But then is says in my gene report that I have a M470V? So I put that in to my computer and found that it is a Cystic fibrosis gene. So is it possable that the F508 and the M470V are the CF genes I have? and that are making me ill with CF? or could it be that I may have 2 F508 genes and that test just did not pick up the other F508.

Thanks,

~Anika~ Cystic Fibrosis/B-caipa CFRD
 
L

lflatford

New member
The most common gene is the DF508, the other could be what the call a non-sense mutation, I for one have not heard of that partucular gene. Your test would have shown if you were a Double Df508, because like I said it is the most common. The M470V is a new one for me, how old are you and when were you diagnosed?

Chuck father to Avery 3 with CF Double Df508 and Rhett carrier
 
L

lflatford

New member
The most common gene is the DF508, the other could be what the call a non-sense mutation, I for one have not heard of that partucular gene. Your test would have shown if you were a Double Df508, because like I said it is the most common. The M470V is a new one for me, how old are you and when were you diagnosed?

Chuck father to Avery 3 with CF Double Df508 and Rhett carrier
 
L

lflatford

New member
The most common gene is the DF508, the other could be what the call a non-sense mutation, I for one have not heard of that partucular gene. Your test would have shown if you were a Double Df508, because like I said it is the most common. The M470V is a new one for me, how old are you and when were you diagnosed?

Chuck father to Avery 3 with CF Double Df508 and Rhett carrier
 
T

tammykrumrey

Guest
This would be a great question for Ambry. Look at the thread above and send Steve this question. I have not heard of this gene mutation myself, but there are just so many...it's definately possible.
 
T

tammykrumrey

Guest
This would be a great question for Ambry. Look at the thread above and send Steve this question. I have not heard of this gene mutation myself, but there are just so many...it's definately possible.
 
T

tammykrumrey

Guest
This would be a great question for Ambry. Look at the thread above and send Steve this question. I have not heard of this gene mutation myself, but there are just so many...it's definately possible.
 
C

CFHockeyMom

New member
<div class="FTQUOTE"><begin quote>The most common gene is the DF508, the other could be what the call a non-sense mutation</end quote></div>

Not true according to my information. M470V is actually classified at a polymorphism. M470V is one of the few polymorphisms known to alter CFTR function enough to cause classic CF symptoms. Many others are reffered to as "non-disease" causing mutations or have mild CFTR dysfunction.

Best to ask Steve in the Ambry thread though...
 
C

CFHockeyMom

New member
<div class="FTQUOTE"><begin quote>The most common gene is the DF508, the other could be what the call a non-sense mutation</end quote></div>

Not true according to my information. M470V is actually classified at a polymorphism. M470V is one of the few polymorphisms known to alter CFTR function enough to cause classic CF symptoms. Many others are reffered to as "non-disease" causing mutations or have mild CFTR dysfunction.

Best to ask Steve in the Ambry thread though...
 
C

CFHockeyMom

New member
<div class="FTQUOTE"><begin quote>The most common gene is the DF508, the other could be what the call a non-sense mutation</end quote></div>

Not true according to my information. M470V is actually classified at a polymorphism. M470V is one of the few polymorphisms known to alter CFTR function enough to cause classic CF symptoms. Many others are reffered to as "non-disease" causing mutations or have mild CFTR dysfunction.

Best to ask Steve in the Ambry thread though...
 
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NoExcuses

New member
Genes don't predict clinical outcome. You can see this by looking at siblings who have copies of the same two CF genes. They almost always have different symptoms and clinical outcomes.

Many people want to be able to predict the future with CF mutations, but there is so much else that goes into the story. Modifier genes, healthcare, compliance, etc.
 
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NoExcuses

New member
Genes don't predict clinical outcome. You can see this by looking at siblings who have copies of the same two CF genes. They almost always have different symptoms and clinical outcomes.

Many people want to be able to predict the future with CF mutations, but there is so much else that goes into the story. Modifier genes, healthcare, compliance, etc.
 
N

NoExcuses

New member
Genes don't predict clinical outcome. You can see this by looking at siblings who have copies of the same two CF genes. They almost always have different symptoms and clinical outcomes.

Many people want to be able to predict the future with CF mutations, but there is so much else that goes into the story. Modifier genes, healthcare, compliance, etc.
 
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mother4

New member
Hi My name is Jane, My son is a deltaf508 and m470v 7t9t variant. the docs at chop in philly cant call it yet not enough info on the m470v. they say maybe as he gets older they cound call it. I would like to know now to do preventative treatment on him. he is now 6. his cousin has cf. double df508. wish I new more thanks Jane<img src="i/expressions/face-icon-small-confused.gif" border="0">
 
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mother4

New member
Hi My name is Jane, My son is a deltaf508 and m470v 7t9t variant. the docs at chop in philly cant call it yet not enough info on the m470v. they say maybe as he gets older they cound call it. I would like to know now to do preventative treatment on him. he is now 6. his cousin has cf. double df508. wish I new more thanks Jane<img src="i/expressions/face-icon-small-confused.gif" border="0">
 
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mother4

New member
Hi My name is Jane, My son is a deltaf508 and m470v 7t9t variant. the docs at chop in philly cant call it yet not enough info on the m470v. they say maybe as he gets older they cound call it. I would like to know now to do preventative treatment on him. he is now 6. his cousin has cf. double df508. wish I new more thanks Jane<img src="i/expressions/face-icon-small-confused.gif" border="0">
 
M

mother4

New member
Hi My name is Jane, My son is a deltaf508 and m470v 7t9t variant. the docs at chop in philly cant call it yet not enough info on the m470v. they say maybe as he gets older they cound call it. I would like to know now to do preventative treatment on him. he is now 6. his cousin has cf. double df508. wish I new more thanks Jane<img src="i/expressions/face-icon-small-confused.gif" border="0">
 
M

mother4

New member
Hi My name is Jane, My son is a deltaf508 and m470v 7t9t variant. the docs at chop in philly cant call it yet not enough info on the m470v. they say maybe as he gets older they cound call it. I would like to know now to do preventative treatment on him. he is now 6. his cousin has cf. double df508. wish I new more thanks Jane<img src="i/expressions/face-icon-small-confused.gif" border="0">
 
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