DF508 and W1282X... what class are these? and where can I find out?

actNOWMom

New member
I have been doing research on my CFers mutated genes and it is very confusing to me. I would like to know what class each of these are in and any really good websites that explains specific combinations. Any clue?<img src="i/expressions/face-icon-small-confused.gif" border="0">
 

actNOWMom

New member
I have been doing research on my CFers mutated genes and it is very confusing to me. I would like to know what class each of these are in and any really good websites that explains specific combinations. Any clue?<img src="i/expressions/face-icon-small-confused.gif" border="0">
 

actNOWMom

New member
I have been doing research on my CFers mutated genes and it is very confusing to me. I would like to know what class each of these are in and any really good websites that explains specific combinations. Any clue?<img src="i/expressions/face-icon-small-confused.gif" border="0">
 

actNOWMom

New member
I have been doing research on my CFers mutated genes and it is very confusing to me. I would like to know what class each of these are in and any really good websites that explains specific combinations. Any clue?<img src="i/expressions/face-icon-small-confused.gif" border="0">
 

actNOWMom

New member
I have been doing research on my CFers mutated genes and it is very confusing to me. I would like to know what class each of these are in and any really good websites that explains specific combinations. Any clue?<img src="i/expressions/face-icon-small-confused.gif" border="0">
 

JazzysMom

New member
You could do an advanced search of the forum. This has been discussed quite a few times so there are lots of threads on it.

In the meantime try looking at this link

<a target=_blank class=ftalternatingbarlinklarge href="http://www.cdc.gov/genomics/gtesting/ACCE/FBR/CF/CFCliVal_24.htm">http://www.cdc.gov/genomics/gt...FBR/CF/CFCliVal_24.htm</a>
 

JazzysMom

New member
You could do an advanced search of the forum. This has been discussed quite a few times so there are lots of threads on it.

In the meantime try looking at this link

<a target=_blank class=ftalternatingbarlinklarge href="http://www.cdc.gov/genomics/gtesting/ACCE/FBR/CF/CFCliVal_24.htm">http://www.cdc.gov/genomics/gt...FBR/CF/CFCliVal_24.htm</a>
 

JazzysMom

New member
You could do an advanced search of the forum. This has been discussed quite a few times so there are lots of threads on it.

In the meantime try looking at this link

<a target=_blank class=ftalternatingbarlinklarge href="http://www.cdc.gov/genomics/gtesting/ACCE/FBR/CF/CFCliVal_24.htm">http://www.cdc.gov/genomics/gt...FBR/CF/CFCliVal_24.htm</a>
 

JazzysMom

New member
You could do an advanced search of the forum. This has been discussed quite a few times so there are lots of threads on it.

In the meantime try looking at this link

<a target=_blank class=ftalternatingbarlinklarge href="http://www.cdc.gov/genomics/gtesting/ACCE/FBR/CF/CFCliVal_24.htm">http://www.cdc.gov/genomics/gt...FBR/CF/CFCliVal_24.htm</a>
 

JazzysMom

New member
You could do an advanced search of the forum. This has been discussed quite a few times so there are lots of threads on it.
<br />
<br />In the meantime try looking at this link
<br />
<br /><a target=_blank class=ftalternatingbarlinklarge href="http://www.cdc.gov/genomics/gtesting/ACCE/FBR/CF/CFCliVal_24.htm">http://www.cdc.gov/genomics/gt...FBR/CF/CFCliVal_24.htm</a>
 

Rebjane

Super Moderator
Hi there,

My daughter has those exact mutations. W1282X is a class one mutation, also none as a nonsense mutation. It is a very common mutation in Ashkenazi Jews. DF508 is a class 2 mutation, it is a very common mutation for CF. There is a very promising clinical trial involving those Cf'ers with the W1282X mutation using a drug called PTC124, I think it's in it's third stage clinical trial. I'm sure others have more info; you can post a question on the family section to Ambry and they may have more info. Also know there is so much more to CF than mutation alone, environment, compliance, financial, modifier genes, nutrition, come into to play.
 

Rebjane

Super Moderator
Hi there,

My daughter has those exact mutations. W1282X is a class one mutation, also none as a nonsense mutation. It is a very common mutation in Ashkenazi Jews. DF508 is a class 2 mutation, it is a very common mutation for CF. There is a very promising clinical trial involving those Cf'ers with the W1282X mutation using a drug called PTC124, I think it's in it's third stage clinical trial. I'm sure others have more info; you can post a question on the family section to Ambry and they may have more info. Also know there is so much more to CF than mutation alone, environment, compliance, financial, modifier genes, nutrition, come into to play.
 

Rebjane

Super Moderator
Hi there,

My daughter has those exact mutations. W1282X is a class one mutation, also none as a nonsense mutation. It is a very common mutation in Ashkenazi Jews. DF508 is a class 2 mutation, it is a very common mutation for CF. There is a very promising clinical trial involving those Cf'ers with the W1282X mutation using a drug called PTC124, I think it's in it's third stage clinical trial. I'm sure others have more info; you can post a question on the family section to Ambry and they may have more info. Also know there is so much more to CF than mutation alone, environment, compliance, financial, modifier genes, nutrition, come into to play.
 

Rebjane

Super Moderator
Hi there,

My daughter has those exact mutations. W1282X is a class one mutation, also none as a nonsense mutation. It is a very common mutation in Ashkenazi Jews. DF508 is a class 2 mutation, it is a very common mutation for CF. There is a very promising clinical trial involving those Cf'ers with the W1282X mutation using a drug called PTC124, I think it's in it's third stage clinical trial. I'm sure others have more info; you can post a question on the family section to Ambry and they may have more info. Also know there is so much more to CF than mutation alone, environment, compliance, financial, modifier genes, nutrition, come into to play.
 

Rebjane

Super Moderator
Hi there,

My daughter has those exact mutations. W1282X is a class one mutation, also none as a nonsense mutation. It is a very common mutation in Ashkenazi Jews. DF508 is a class 2 mutation, it is a very common mutation for CF. There is a very promising clinical trial involving those Cf'ers with the W1282X mutation using a drug called PTC124, I think it's in it's third stage clinical trial. I'm sure others have more info; you can post a question on the family section to Ambry and they may have more info. Also know there is so much more to CF than mutation alone, environment, compliance, financial, modifier genes, nutrition, come into to play.
 
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