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Got my geno results..

beleache

New member
Its been 12 years since my dx.. When i was originally geno typed they found one of my mutations Delta F 508..
Well i just got the call and, drum roll, lol the other mutation is
4382 Dela.. Anyone else have this mutation?
<img src="i/expressions/face-icon-small-smile.gif" border="0"> joni
 

beleache

New member
Its been 12 years since my dx.. When i was originally geno typed they found one of my mutations Delta F 508..
Well i just got the call and, drum roll, lol the other mutation is
4382 Dela.. Anyone else have this mutation?
<img src="i/expressions/face-icon-small-smile.gif" border="0"> joni
 

beleache

New member
Its been 12 years since my dx.. When i was originally geno typed they found one of my mutations Delta F 508..
Well i just got the call and, drum roll, lol the other mutation is
4382 Dela.. Anyone else have this mutation?
<img src="i/expressions/face-icon-small-smile.gif" border="0"> joni
 

beleache

New member
Its been 12 years since my dx.. When i was originally geno typed they found one of my mutations Delta F 508..
Well i just got the call and, drum roll, lol the other mutation is
4382 Dela.. Anyone else have this mutation?
<img src="i/expressions/face-icon-small-smile.gif" border="0"> joni
 

beleache

New member
Its been 12 years since my dx.. When i was originally geno typed they found one of my mutations Delta F 508..
<br />Well i just got the call and, drum roll, lol the other mutation is
<br />4382 Dela.. Anyone else have this mutation?
<br /><img src="i/expressions/face-icon-small-smile.gif" border="0"> joni
<br />
 

Faust

New member
I have yet to find a good database on CF mutations that explains the mutations in layman terms. The ones previously provided on here are sadly lacking.
 

Faust

New member
I have yet to find a good database on CF mutations that explains the mutations in layman terms. The ones previously provided on here are sadly lacking.
 

Faust

New member
I have yet to find a good database on CF mutations that explains the mutations in layman terms. The ones previously provided on here are sadly lacking.
 

Faust

New member
I have yet to find a good database on CF mutations that explains the mutations in layman terms. The ones previously provided on here are sadly lacking.
 

Faust

New member
I have yet to find a good database on CF mutations that explains the mutations in layman terms. The ones previously provided on here are sadly lacking.
<br />
<br />
 
A

alegris

Guest
Hi,

I have a deletion mutation as well. Here's my understanding in a nutshell;

Each gene contains a DNA sequence. DNA is a double helix made up of 4 different nucleotides (A,T,C,G - short forms, writing out the whole name makes things more confusing then they have to be). Think of DNA as a ladder. On each side of the ladder are the chains of nucleotides and the 'rungs' are bonding the nucleotides together. Now, the A nucleotide can only bind with the T nucleotide. And the C nucleotide can only bind with the G nucleotide.

Your mutation is 4382delA, which means you have a deletion of the A nucleotide at the 4382 position ('rung') of your DNA sequence. This causes a 'frame shift,' meaning that because you're missing a nucleotide, the entire sequence shifts and you therefore lose the function of the gene. (think of the T nucleotide across from the missing A nucleotide having nothing to bind to, so the rung is just kind of hanging out there, screwing up the whole order of things)

Does this make any sense at all?? I'm sure a geneticist would explain things much more eloquently, but that's my basic understanding of what's going on!
 
A

alegris

Guest
Hi,

I have a deletion mutation as well. Here's my understanding in a nutshell;

Each gene contains a DNA sequence. DNA is a double helix made up of 4 different nucleotides (A,T,C,G - short forms, writing out the whole name makes things more confusing then they have to be). Think of DNA as a ladder. On each side of the ladder are the chains of nucleotides and the 'rungs' are bonding the nucleotides together. Now, the A nucleotide can only bind with the T nucleotide. And the C nucleotide can only bind with the G nucleotide.

Your mutation is 4382delA, which means you have a deletion of the A nucleotide at the 4382 position ('rung') of your DNA sequence. This causes a 'frame shift,' meaning that because you're missing a nucleotide, the entire sequence shifts and you therefore lose the function of the gene. (think of the T nucleotide across from the missing A nucleotide having nothing to bind to, so the rung is just kind of hanging out there, screwing up the whole order of things)

Does this make any sense at all?? I'm sure a geneticist would explain things much more eloquently, but that's my basic understanding of what's going on!
 
A

alegris

Guest
Hi,

I have a deletion mutation as well. Here's my understanding in a nutshell;

Each gene contains a DNA sequence. DNA is a double helix made up of 4 different nucleotides (A,T,C,G - short forms, writing out the whole name makes things more confusing then they have to be). Think of DNA as a ladder. On each side of the ladder are the chains of nucleotides and the 'rungs' are bonding the nucleotides together. Now, the A nucleotide can only bind with the T nucleotide. And the C nucleotide can only bind with the G nucleotide.

Your mutation is 4382delA, which means you have a deletion of the A nucleotide at the 4382 position ('rung') of your DNA sequence. This causes a 'frame shift,' meaning that because you're missing a nucleotide, the entire sequence shifts and you therefore lose the function of the gene. (think of the T nucleotide across from the missing A nucleotide having nothing to bind to, so the rung is just kind of hanging out there, screwing up the whole order of things)

Does this make any sense at all?? I'm sure a geneticist would explain things much more eloquently, but that's my basic understanding of what's going on!
 
A

alegris

Guest
Hi,

I have a deletion mutation as well. Here's my understanding in a nutshell;

Each gene contains a DNA sequence. DNA is a double helix made up of 4 different nucleotides (A,T,C,G - short forms, writing out the whole name makes things more confusing then they have to be). Think of DNA as a ladder. On each side of the ladder are the chains of nucleotides and the 'rungs' are bonding the nucleotides together. Now, the A nucleotide can only bind with the T nucleotide. And the C nucleotide can only bind with the G nucleotide.

Your mutation is 4382delA, which means you have a deletion of the A nucleotide at the 4382 position ('rung') of your DNA sequence. This causes a 'frame shift,' meaning that because you're missing a nucleotide, the entire sequence shifts and you therefore lose the function of the gene. (think of the T nucleotide across from the missing A nucleotide having nothing to bind to, so the rung is just kind of hanging out there, screwing up the whole order of things)

Does this make any sense at all?? I'm sure a geneticist would explain things much more eloquently, but that's my basic understanding of what's going on!
 
A

alegris

Guest
Hi,
<br />
<br />I have a deletion mutation as well. Here's my understanding in a nutshell;
<br />
<br />Each gene contains a DNA sequence. DNA is a double helix made up of 4 different nucleotides (A,T,C,G - short forms, writing out the whole name makes things more confusing then they have to be). Think of DNA as a ladder. On each side of the ladder are the chains of nucleotides and the 'rungs' are bonding the nucleotides together. Now, the A nucleotide can only bind with the T nucleotide. And the C nucleotide can only bind with the G nucleotide.
<br />
<br />Your mutation is 4382delA, which means you have a deletion of the A nucleotide at the 4382 position ('rung') of your DNA sequence. This causes a 'frame shift,' meaning that because you're missing a nucleotide, the entire sequence shifts and you therefore lose the function of the gene. (think of the T nucleotide across from the missing A nucleotide having nothing to bind to, so the rung is just kind of hanging out there, screwing up the whole order of things)
<br />
<br />Does this make any sense at all?? I'm sure a geneticist would explain things much more eloquently, but that's my basic understanding of what's going on!
 

beleache

New member
Thanks Adrienne, Yes it was helpful.. The genetic counselor said that the 4382 delA is at the top of the ladder.. She also said when i go to clinic in 3 wks she will explain further. My two younger sons will be geno typed next since we know that the gene runs in my husbands family. I will be praying hard for good results.. <img src="i/expressions/heart.gif" border="0"> joni
 

beleache

New member
Thanks Adrienne, Yes it was helpful.. The genetic counselor said that the 4382 delA is at the top of the ladder.. She also said when i go to clinic in 3 wks she will explain further. My two younger sons will be geno typed next since we know that the gene runs in my husbands family. I will be praying hard for good results.. <img src="i/expressions/heart.gif" border="0"> joni
 

beleache

New member
Thanks Adrienne, Yes it was helpful.. The genetic counselor said that the 4382 delA is at the top of the ladder.. She also said when i go to clinic in 3 wks she will explain further. My two younger sons will be geno typed next since we know that the gene runs in my husbands family. I will be praying hard for good results.. <img src="i/expressions/heart.gif" border="0"> joni
 

beleache

New member
Thanks Adrienne, Yes it was helpful.. The genetic counselor said that the 4382 delA is at the top of the ladder.. She also said when i go to clinic in 3 wks she will explain further. My two younger sons will be geno typed next since we know that the gene runs in my husbands family. I will be praying hard for good results.. <img src="i/expressions/heart.gif" border="0"> joni
 

beleache

New member
Thanks Adrienne, Yes it was helpful.. The genetic counselor said that the 4382 delA is at the top of the ladder.. She also said when i go to clinic in 3 wks she will explain further. My two younger sons will be geno typed next since we know that the gene runs in my husbands family. I will be praying hard for good results.. <img src="i/expressions/heart.gif" border="0"> joni
 
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