my genes

L

littledebbie

New member
Okay, I know we have more threads on genes than we could possibly
need.  But I had a Dr. apt. today and in looking at my
paperwork I can see they typed me in 2001.  However, since I
never asked...since I don't really care...I never knew.  But
since now I do know I thought I'd see if any of you folks have
my combo <img src="i/expressions/face-icon-small-smile.gif" border="0"><br>
<br>
I am F508 and G542X<br>
<br>
That's a Class II and a Class I...right?
 
C

CowTown

New member
I do.

I have F508 and G542X and from what I understand it is Class II and Class I.

I asked the same thing about this combo a while back and I think only 3 other people said they had it too. I guess it's rare?
 
L

littledebbie

New member
awww Kelly we have the same gene and similar kidney issues...I feel
an internet session of cumbaya happening here.........  <img src="i/expressions/face-icon-small-happy.gif" border="0">
 
E

Emily65Roses

New member
I do not have those genes, but I will tell you I have the same class combination. I have the F508 (class II), and another class I of a different name.
 
T

thelizardqueen

New member
Well I only have one of your gene's Debbie. Can I still be part of the club though?<img src="i/expressions/face-icon-small-wink.gif" border="0"> I'm double delta f508.
 
S

sue35

New member
I am a double Delta F508 too...wow we can all be in a gene club..I KNEW there was a plus to this disease<img src="i/expressions/face-icon-small-smile.gif" border="0">
 
R

randford

New member
<b>Snackcake,<br>
</b><br>
I have F508 and P140S. What's Class II and a Class I?<br>
<br>
<b>Randford<br>
</b>43/CF
 
T

thelizardqueen

New member
Genes are divided into Class categories 1-5. 1 being most severe, 5 being less severe when it comes to digestive problems. Here is a breakdown:

Class 1 mutations - Defective protein production with premature termination of CFTR production. Class 1 mutations produce few or no functioning CFTR chloride channels.

Class 2 mutations - Defective trafficking of CFTR so that it does not reach the apical surface membrane where it is intended to function.

Class 3 mutations - Defective regulation of CFTR even though it is able to reach the apical cell surface.

Class 4 mutations - CFTR reaches the apical surface but conduction through the channel is defective.

Class 5 mutations - Associated with reduced synthesis of functional CFTR.
 
L

littledebbie

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>randford</b></i> <b>Snackcake, </b>
I have F508 and P140S. What's Class II and a Class I? <b>Randford
</b>43/CF</end quote></div><br>
<br>
Snackcake...I think you mean me?  how cute is that!!!!
 If you enter the word "genes" in the search in the
adult section here you will find a ton of threads with a lot of
good info on genes.  I found this link Emily (of Emily65roses)
found to be particularly helpful.<br>
<br>
<a href=
"http://www.cdc.gov/genomics/gtesting/ACCE/FBR/CF/CFCliVal_24.htm">scroll
down page for classes</a><br>
<br>
<br>
yeah gene club!  I'm so excited!  Maybe we can get Allie
to make us t-shirts! he he he he Everyone....<img src="i/expressions/musicnote.gif" border="0"> cumbaya..
<img src="i/expressions/face-icon-small-happy.gif" border="0">..someone grab the smores!<br>
 
E

EnergyGal

New member
I am glad that I read this thread. Ditto for me

Delta F508 and G542X

No kidney issues for me. Great kidneys and liver
 
E

EnergyGal

New member
I heard from a doctor that these two genes are the most common. I always knew about the delta but did not know that G542x was common.
 
C

CowTown

New member
Risa, if these two genes are the most common, do you know why we haven't seen more people with those on here? At this point I only know you, Debbie, me and Caleb (4yrs old). Do you know anyone with that combo?

Seems wild.
 
L

LouLou

New member
hmm I read in one of emily's links my combo contained the two most commonly found genes. Delta F508 and G551D but I do remember seeing somewhere else that a different gene ranked # two.
 
R

randford

New member
<b>LittleDebbie,<br>
</b><br>
Hehe! I thought you'd like that! ;-) This is my favorite!
http://www.littledebbie.com/products/SnackCakes.asp<br>
<br>
Thanks for the info. I see the class listing. Hey, I'm confused.
How do you know what class your genes or there combination can be?
I'm Delta F-508 and P-140S.<br>
<br>
Thanks!<br>
<br>
<b>Randford</b>
 
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