Which gene type are you?

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welshwitch

Guest
Even after all my years of research, I still have no idea! I think it's still a huge question mark. Some people with the same genotype have completely different outcomes! So I would say I don't know. But I'm still interested in it . That's why I put my genotype in my signature <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
W

welshwitch

Guest
Even after all my years of research, I still have no idea! I think it's still a huge question mark. Some people with the same genotype have completely different outcomes! So I would say I don't know. But I'm still interested in it . That's why I put my genotype in my signature <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
W

welshwitch

Guest
Even after all my years of research, I still have no idea! I think it's still a huge question mark. Some people with the same genotype have completely different outcomes! So I would say I don't know. But I'm still interested in it . That's why I put my genotype in my signature <img src="i/expressions/face-icon-small-smile.gif" border="0">
 

ej0820

New member
hey there!

There aren't any "good or bad" mutations. They're all mutations, so they're all technically bad. As far as one being worse as opposed to another, it really depends on the person. I have DDF508 and so did a friend of mine growing up with CF. He was VERY sick. From about 5 years old and on, we didn't see each other because of his health. He unfortunately passed away at age 22, from many CF complications. I, on the other hand, have been relatively healthy all my life. I'm only now starting to get more and more severe CF symptoms. Same mutation, very different effects.

You may hear that DF508 is a bad one, but that's not proven. It is, however, one of the most common mutations in CF. I think a lot of people tend to associate the fact that it's so common with it being a "bad one". Like I said, I don't think that's been proven. If I'm not mistaken, one of the "elders" on this forum (above age 50) has the same mutation as you and I...so that just shows the difference in people even more.

Hope that helped. <img src="i/expressions/face-icon-small-smile.gif" border="0">
 

ej0820

New member
hey there!

There aren't any "good or bad" mutations. They're all mutations, so they're all technically bad. As far as one being worse as opposed to another, it really depends on the person. I have DDF508 and so did a friend of mine growing up with CF. He was VERY sick. From about 5 years old and on, we didn't see each other because of his health. He unfortunately passed away at age 22, from many CF complications. I, on the other hand, have been relatively healthy all my life. I'm only now starting to get more and more severe CF symptoms. Same mutation, very different effects.

You may hear that DF508 is a bad one, but that's not proven. It is, however, one of the most common mutations in CF. I think a lot of people tend to associate the fact that it's so common with it being a "bad one". Like I said, I don't think that's been proven. If I'm not mistaken, one of the "elders" on this forum (above age 50) has the same mutation as you and I...so that just shows the difference in people even more.

Hope that helped. <img src="i/expressions/face-icon-small-smile.gif" border="0">
 

ej0820

New member
hey there!
<br />
<br />There aren't any "good or bad" mutations. They're all mutations, so they're all technically bad. As far as one being worse as opposed to another, it really depends on the person. I have DDF508 and so did a friend of mine growing up with CF. He was VERY sick. From about 5 years old and on, we didn't see each other because of his health. He unfortunately passed away at age 22, from many CF complications. I, on the other hand, have been relatively healthy all my life. I'm only now starting to get more and more severe CF symptoms. Same mutation, very different effects.
<br />
<br />You may hear that DF508 is a bad one, but that's not proven. It is, however, one of the most common mutations in CF. I think a lot of people tend to associate the fact that it's so common with it being a "bad one". Like I said, I don't think that's been proven. If I'm not mistaken, one of the "elders" on this forum (above age 50) has the same mutation as you and I...so that just shows the difference in people even more.
<br />
<br />Hope that helped. <img src="i/expressions/face-icon-small-smile.gif" border="0">
 

ej0820

New member
and if you were wondering even more...

DDF508 means:

D-double (because you have two)
D-delta (means 'deletion'...you'll see why)
F-Phenylalanine. Phenylalanine is an amino acid. Amino acids are stuck together to make DNA. In CF, this particular amino acid is missing, or deleted (why they use 'F' instead of 'Ph', I have no idea).
508- As far as amino acids go, there are a ton of chains of them in your DNA. Some of these chains contain only a few amino acids, some have hundreds! 508 refers to the position of the chain on the DNA that the Phenylalanine is missing from. There's a Phenlalanine missing from the 508th position of this particular amino acid chain. Obviously, this chain has A TON of amino acids!!

I hope I didn't confuse you with this. <img src="i/expressions/face-icon-small-smile.gif" border="0">
 

ej0820

New member
and if you were wondering even more...

DDF508 means:

D-double (because you have two)
D-delta (means 'deletion'...you'll see why)
F-Phenylalanine. Phenylalanine is an amino acid. Amino acids are stuck together to make DNA. In CF, this particular amino acid is missing, or deleted (why they use 'F' instead of 'Ph', I have no idea).
508- As far as amino acids go, there are a ton of chains of them in your DNA. Some of these chains contain only a few amino acids, some have hundreds! 508 refers to the position of the chain on the DNA that the Phenylalanine is missing from. There's a Phenlalanine missing from the 508th position of this particular amino acid chain. Obviously, this chain has A TON of amino acids!!

I hope I didn't confuse you with this. <img src="i/expressions/face-icon-small-smile.gif" border="0">
 

ej0820

New member
and if you were wondering even more...
<br />
<br />DDF508 means:
<br />
<br />D-double (because you have two)
<br />D-delta (means 'deletion'...you'll see why)
<br />F-Phenylalanine. Phenylalanine is an amino acid. Amino acids are stuck together to make DNA. In CF, this particular amino acid is missing, or deleted (why they use 'F' instead of 'Ph', I have no idea).
<br />508- As far as amino acids go, there are a ton of chains of them in your DNA. Some of these chains contain only a few amino acids, some have hundreds! 508 refers to the position of the chain on the DNA that the Phenylalanine is missing from. There's a Phenlalanine missing from the 508th position of this particular amino acid chain. Obviously, this chain has A TON of amino acids!!
<br />
<br />I hope I didn't confuse you with this. <img src="i/expressions/face-icon-small-smile.gif" border="0">
 

missT

Member
I have two mutations one is class one W1282X (bad)and one is class four or five R114H. I believe it is the R114H that has kept me around so long...just my opinion. there will be many views on this but I do think that some mutations are better then others.
 

missT

Member
I have two mutations one is class one W1282X (bad)and one is class four or five R114H. I believe it is the R114H that has kept me around so long...just my opinion. there will be many views on this but I do think that some mutations are better then others.
 

missT

Member
I have two mutations one is class one W1282X (bad)and one is class four or five R114H. I believe it is the R114H that has kept me around so long...just my opinion. there will be many views on this but I do think that some mutations are better then others.
 

BaylorCrew07

New member
I have G542X (which I believe is a no-nonsense/supposedly worse class mutation) and R117H, which is supposedly not as severe. I had a link to the different classes of mutations that someone posted on here a while ago, but can't seem to find it.
 

BaylorCrew07

New member
I have G542X (which I believe is a no-nonsense/supposedly worse class mutation) and R117H, which is supposedly not as severe. I had a link to the different classes of mutations that someone posted on here a while ago, but can't seem to find it.
 

BaylorCrew07

New member
I have G542X (which I believe is a no-nonsense/supposedly worse class mutation) and R117H, which is supposedly not as severe. I had a link to the different classes of mutations that someone posted on here a while ago, but can't seem to find it.
 
M

marcijo

Guest
My genotyping is DF508 and R117H. I wasn't diagnosed until I was 21 and was fairly healthy up until then...now I go on antibiotics/steriods when I get sick....but I am almost 37 and still pretty healthy. I think a lot of it has to do with the R117H...but who really knows?
 
M

marcijo

Guest
My genotyping is DF508 and R117H. I wasn't diagnosed until I was 21 and was fairly healthy up until then...now I go on antibiotics/steriods when I get sick....but I am almost 37 and still pretty healthy. I think a lot of it has to do with the R117H...but who really knows?
 
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