CF MUTATIONS

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anonymous

New member
I have read a few people mention CF mutations and what they are classed as. Eg Rob ask's does he have cf as he hsa two gene's DELF508 and R117H, class 4. How do you class your mutation and what do the classes/levels mean?
eg: what class would a double deltaf508 be in, i know they say its the most severe form.
Sorry if its a stupid question, i'm just a little confused.
 
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Emily65Roses

New member
Double DeltaF508 is not the most severe form (I've heard that more than once and still don't understand where people are getting it from??), and here's why. DeltaF508 is a Class Two mutation. Class One is the worst. So someone with a double DeltaF508 has two Class Twos. Anyone with two Class Ones, or a Class Two and Class One is going to be worse than the person with two DeltaF508s (Class Twos). Mind you, this is ONLY according to this theory, and there are a lot more things involved.

As for which class each mutations is in, you don't class it yourself. Each mutation is already "assigned" to a class based on what kind of mutation it is (this is getting really into biomolecular stuff, but things like: nonsense, substitution, deletion, addition, spliced, etc), what works and what doesn't, what's missing or not, and what kind of damage it does.
 
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Emily65Roses

New member
Yes indeedie.


<a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/CFmutations96-1.html
">Types of Mutations</a>

<a target=_blank class=ftalternatingbarlinklarge href="http://www.cdc.gov/genomics/gtesting/ACCE/FBR/CF/CFCliVal_24.htm">Some Common Mutations and What Classes They Are... and Other Info</a>

<a target=_blank class=ftalternatingbarlinklarge href="http://users.rcn.com/jkimball.ma.ultranet/BiologyPages/M/Mutations.html">More About Mutation Types and What They Mean</a>

I'm searching for this page I know has a list of mutations and what classes they are... having trouble. I'll post again when I find it. Those links should help for now, though.
 
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Emily65Roses

New member
I have trouble navigating this site, myself... but if you can do it, it's chock full of information:
<a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/">CF Mutation Database</a>

Still looking and if I find anything else, I'll add it on.
 
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Ratatosk

Administrator
Staff member
When I first looked up the the double f508 mutation, I think I came across one Journal article that referred to it as the "most severe" -- a good number had meconium illeus, most had pancreatic insufficiency, a number of them developed CFRD... Since a very large percentage of cfers have that mutation could that be the reason... Who knows...
 
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Emily65Roses

New member
Then perhaps it's the most digestion-related severe? Maybe that's what it said? As for myself, I count severe as all symptoms all around, so DeltaF508 doesn't really fit it for me.
 
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Emily65Roses

New member
Oh!

<a target=_blank class=ftalternatingbarlinklarge href="http://www.cysticfibrosismedicine.com/CFdocs/CFText/gene.htm">More Info... About Halfway Down the Page, There's a Table That Describes the Different Classes</a>
 
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Emily65Roses

New member
*bashes head against wall*

I can't seem to find the link I'm looking for!! DOH! I can see the page in my head, I'm just not finding it anywhere, no matter what I type into google. Sorry 'bout that. If I come across it in surfing or what have you, I'll post it on. But don't hold your breath. <img src="i/expressions/face-icon-small-sad.gif" border="0"> I hope the links I already posted are helpful enough, because my bone-head can't find the others. Haha.
 
A

anonymous

New member
Thanks' for all the great info everyone, especially to you Emily. Those links are very infromative.

Thanks again.
 
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blindhearted

New member
Em, have you tried using Ask.com? Some of the pages that comes up have little binoculars (sp?) at them so you can preview the page w/o clicking on it completely...speeding the search up. Just thought I would suggest that since you have the page in ur head and know what it looks like.

This is a mutation database that I got from a CF mailing list. Not sure if this is what your looking for, but you could check it out...

<a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/
">http://www.genet.sickkids.on.ca/cftr/
</a>
 
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Emily65Roses

New member
I've never heard of that site, I'll have to try it out. And just FYI, I posted a link to that site already. I think it's the one I titled "CF Mutation Database." <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
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blindhearted

New member
oh, sorry ... hehe. You can tell I didnt click all the links. I'm having one of my short attention span days <img src="i/expressions/face-icon-small-smile.gif" border="0"> I just remembered it from an old email I go back in april, so I just posted it.
 
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Emily65Roses

New member
No prob bob. You posted it a second time, so we can be sure people will see it. It's a safety measure. <img src="i/expressions/face-icon-small-happy.gif" border="0">
 
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Caleblove0802

New member
Thank you Emily for providing these links. I have had several questions answered by looking at the links. I just didn't know how to word my questions I had. Thanks <img src="i/expressions/face-icon-small-smile.gif" border="0">

Melissa
1 son Caleb 9mos w/CF 23POUNDS!!
 
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NoExcuses

New member
As a side note - your CF mutations aren't the only genes that determine your severity of illness.

A prime example is TheLizardQueen (Liz) who is double delta F508 and who has really mild CF.

Modifier genes affect how CF mutations are expressed - and therefore have a large effect on how severe CF is.

Just taking a look at CF mutations won't tell you much about how someone's CF will turn out ....
 
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princessjdc

New member
You know according to the ol'chart, Im in class 1, G542X, but I consider me to have a mild form of the disease, I've never been really sick my entire life, only when I was a baby and wasnt diagnosed yet, but other than that I've been pretty healthy. If Im understanding the class thing right.
 
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Emily65Roses

New member
Yeah, Jennifer, that's what Amy was saying. If you're going based on genes alone, you should be sick. But in reality, there are SO MANY other factors. The mutations play a part, but it's one of many, so you can easily have bad mutations and be doing well.
 
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