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mild gene or ?
- Thread starter grsswspr
- Start date
CFHockeyMom
New member
Firstly, I must say that gene types/classifications do not necessarily predict the severity of the disease. However, there has been some research into the topic. There has been a lot posted here over time but this seems to be the most pertinent to your question. Of course, it assumes you know your gene classification. If not, I can probably help with that if you post the genes you are researching.
This is the info Allie posted about gene type combinations...
<div class="FTQUOTE"><begin quote>Now, I know this is just one article, but I found it really interesting, in france, they did research of CFers with class I /I or class II/I combinations. They found a much higher likelihood of severe pancreatic disease (which we knew), but the interestig thing was they found that people with a class one mutation were more likely to be colonized with pseudo. Interesting.
<a target=_blank class=ftalternatingbarlinklarge href="http://www.pslgroup.com/dg/214BBE.htm">http://www.pslgroup.com/dg/214BBE.htm</a>
Seventy four patients were included in the study. Patients with genotype I-II/I-II had significantly lower current spirometric values (p < 0.001), greater loss of pulmonary function (p < 0.04), a higher proportion of end-stage lung disease (p < 0.001), a higher risk of suffering from moderate to severe lung disease (odds ratio 7.12 (95% CI 1.3 to 40.5)) and a lower probability of survival than patients with genotype I-II/III, I-II/IV and I-II/V (p < 0.001). CONCLUSIONS: The presence of class I or II mutations on both chromosomes is associated with worse respiratory disease and a lower probability of survival . </end quote></div>
Again, specific gene types don't guarantee the severity of the disease or the progression however, the info can be referred to as a "rule of thumb". Environment, treatment quality, and treatment compliance are equally important in determining long term prognosis.
This is the info Allie posted about gene type combinations...
<div class="FTQUOTE"><begin quote>Now, I know this is just one article, but I found it really interesting, in france, they did research of CFers with class I /I or class II/I combinations. They found a much higher likelihood of severe pancreatic disease (which we knew), but the interestig thing was they found that people with a class one mutation were more likely to be colonized with pseudo. Interesting.
<a target=_blank class=ftalternatingbarlinklarge href="http://www.pslgroup.com/dg/214BBE.htm">http://www.pslgroup.com/dg/214BBE.htm</a>
Seventy four patients were included in the study. Patients with genotype I-II/I-II had significantly lower current spirometric values (p < 0.001), greater loss of pulmonary function (p < 0.04), a higher proportion of end-stage lung disease (p < 0.001), a higher risk of suffering from moderate to severe lung disease (odds ratio 7.12 (95% CI 1.3 to 40.5)) and a lower probability of survival than patients with genotype I-II/III, I-II/IV and I-II/V (p < 0.001). CONCLUSIONS: The presence of class I or II mutations on both chromosomes is associated with worse respiratory disease and a lower probability of survival . </end quote></div>
Again, specific gene types don't guarantee the severity of the disease or the progression however, the info can be referred to as a "rule of thumb". Environment, treatment quality, and treatment compliance are equally important in determining long term prognosis.
CFHockeyMom
New member
Firstly, I must say that gene types/classifications do not necessarily predict the severity of the disease. However, there has been some research into the topic. There has been a lot posted here over time but this seems to be the most pertinent to your question. Of course, it assumes you know your gene classification. If not, I can probably help with that if you post the genes you are researching.
This is the info Allie posted about gene type combinations...
<div class="FTQUOTE"><begin quote>Now, I know this is just one article, but I found it really interesting, in france, they did research of CFers with class I /I or class II/I combinations. They found a much higher likelihood of severe pancreatic disease (which we knew), but the interestig thing was they found that people with a class one mutation were more likely to be colonized with pseudo. Interesting.
<a target=_blank class=ftalternatingbarlinklarge href="http://www.pslgroup.com/dg/214BBE.htm">http://www.pslgroup.com/dg/214BBE.htm</a>
Seventy four patients were included in the study. Patients with genotype I-II/I-II had significantly lower current spirometric values (p < 0.001), greater loss of pulmonary function (p < 0.04), a higher proportion of end-stage lung disease (p < 0.001), a higher risk of suffering from moderate to severe lung disease (odds ratio 7.12 (95% CI 1.3 to 40.5)) and a lower probability of survival than patients with genotype I-II/III, I-II/IV and I-II/V (p < 0.001). CONCLUSIONS: The presence of class I or II mutations on both chromosomes is associated with worse respiratory disease and a lower probability of survival . </end quote></div>
Again, specific gene types don't guarantee the severity of the disease or the progression however, the info can be referred to as a "rule of thumb". Environment, treatment quality, and treatment compliance are equally important in determining long term prognosis.
This is the info Allie posted about gene type combinations...
<div class="FTQUOTE"><begin quote>Now, I know this is just one article, but I found it really interesting, in france, they did research of CFers with class I /I or class II/I combinations. They found a much higher likelihood of severe pancreatic disease (which we knew), but the interestig thing was they found that people with a class one mutation were more likely to be colonized with pseudo. Interesting.
<a target=_blank class=ftalternatingbarlinklarge href="http://www.pslgroup.com/dg/214BBE.htm">http://www.pslgroup.com/dg/214BBE.htm</a>
Seventy four patients were included in the study. Patients with genotype I-II/I-II had significantly lower current spirometric values (p < 0.001), greater loss of pulmonary function (p < 0.04), a higher proportion of end-stage lung disease (p < 0.001), a higher risk of suffering from moderate to severe lung disease (odds ratio 7.12 (95% CI 1.3 to 40.5)) and a lower probability of survival than patients with genotype I-II/III, I-II/IV and I-II/V (p < 0.001). CONCLUSIONS: The presence of class I or II mutations on both chromosomes is associated with worse respiratory disease and a lower probability of survival . </end quote></div>
Again, specific gene types don't guarantee the severity of the disease or the progression however, the info can be referred to as a "rule of thumb". Environment, treatment quality, and treatment compliance are equally important in determining long term prognosis.
CFHockeyMom
New member
Firstly, I must say that gene types/classifications do not necessarily predict the severity of the disease. However, there has been some research into the topic. There has been a lot posted here over time but this seems to be the most pertinent to your question. Of course, it assumes you know your gene classification. If not, I can probably help with that if you post the genes you are researching.
This is the info Allie posted about gene type combinations...
<div class="FTQUOTE"><begin quote>Now, I know this is just one article, but I found it really interesting, in france, they did research of CFers with class I /I or class II/I combinations. They found a much higher likelihood of severe pancreatic disease (which we knew), but the interestig thing was they found that people with a class one mutation were more likely to be colonized with pseudo. Interesting.
<a target=_blank class=ftalternatingbarlinklarge href="http://www.pslgroup.com/dg/214BBE.htm">http://www.pslgroup.com/dg/214BBE.htm</a>
Seventy four patients were included in the study. Patients with genotype I-II/I-II had significantly lower current spirometric values (p < 0.001), greater loss of pulmonary function (p < 0.04), a higher proportion of end-stage lung disease (p < 0.001), a higher risk of suffering from moderate to severe lung disease (odds ratio 7.12 (95% CI 1.3 to 40.5)) and a lower probability of survival than patients with genotype I-II/III, I-II/IV and I-II/V (p < 0.001). CONCLUSIONS: The presence of class I or II mutations on both chromosomes is associated with worse respiratory disease and a lower probability of survival . </end quote></div>
Again, specific gene types don't guarantee the severity of the disease or the progression however, the info can be referred to as a "rule of thumb". Environment, treatment quality, and treatment compliance are equally important in determining long term prognosis.
This is the info Allie posted about gene type combinations...
<div class="FTQUOTE"><begin quote>Now, I know this is just one article, but I found it really interesting, in france, they did research of CFers with class I /I or class II/I combinations. They found a much higher likelihood of severe pancreatic disease (which we knew), but the interestig thing was they found that people with a class one mutation were more likely to be colonized with pseudo. Interesting.
<a target=_blank class=ftalternatingbarlinklarge href="http://www.pslgroup.com/dg/214BBE.htm">http://www.pslgroup.com/dg/214BBE.htm</a>
Seventy four patients were included in the study. Patients with genotype I-II/I-II had significantly lower current spirometric values (p < 0.001), greater loss of pulmonary function (p < 0.04), a higher proportion of end-stage lung disease (p < 0.001), a higher risk of suffering from moderate to severe lung disease (odds ratio 7.12 (95% CI 1.3 to 40.5)) and a lower probability of survival than patients with genotype I-II/III, I-II/IV and I-II/V (p < 0.001). CONCLUSIONS: The presence of class I or II mutations on both chromosomes is associated with worse respiratory disease and a lower probability of survival . </end quote></div>
Again, specific gene types don't guarantee the severity of the disease or the progression however, the info can be referred to as a "rule of thumb". Environment, treatment quality, and treatment compliance are equally important in determining long term prognosis.
Excellent post Cludette -- very informative
Sheilas Dad -- yes I was told by our CF doc that the milder gene plays dominent. But that was said when referring to two different classes so I don't know how that would play out if both genes are in the same class.
It is helpful to know what class genes you are dealing with, as it does make a difference in the new drugs/cures/gene therapy coming down the pipeline that work specifically on what the CFTR defect is.
Sheilas Dad -- yes I was told by our CF doc that the milder gene plays dominent. But that was said when referring to two different classes so I don't know how that would play out if both genes are in the same class.
It is helpful to know what class genes you are dealing with, as it does make a difference in the new drugs/cures/gene therapy coming down the pipeline that work specifically on what the CFTR defect is.
Excellent post Cludette -- very informative
Sheilas Dad -- yes I was told by our CF doc that the milder gene plays dominent. But that was said when referring to two different classes so I don't know how that would play out if both genes are in the same class.
It is helpful to know what class genes you are dealing with, as it does make a difference in the new drugs/cures/gene therapy coming down the pipeline that work specifically on what the CFTR defect is.
Sheilas Dad -- yes I was told by our CF doc that the milder gene plays dominent. But that was said when referring to two different classes so I don't know how that would play out if both genes are in the same class.
It is helpful to know what class genes you are dealing with, as it does make a difference in the new drugs/cures/gene therapy coming down the pipeline that work specifically on what the CFTR defect is.
Excellent post Cludette -- very informative
Sheilas Dad -- yes I was told by our CF doc that the milder gene plays dominent. But that was said when referring to two different classes so I don't know how that would play out if both genes are in the same class.
It is helpful to know what class genes you are dealing with, as it does make a difference in the new drugs/cures/gene therapy coming down the pipeline that work specifically on what the CFTR defect is.
Sheilas Dad -- yes I was told by our CF doc that the milder gene plays dominent. But that was said when referring to two different classes so I don't know how that would play out if both genes are in the same class.
It is helpful to know what class genes you are dealing with, as it does make a difference in the new drugs/cures/gene therapy coming down the pipeline that work specifically on what the CFTR defect is.
CFHockeyMom
New member
Delta F508 is considered a class two gene which results in an absence of CFTR from the membrane. I have not heard/read that the "milder" gene is necessarily the dominant gene.
CFHockeyMom
New member
Delta F508 is considered a class two gene which results in an absence of CFTR from the membrane. I have not heard/read that the "milder" gene is necessarily the dominant gene.
CFHockeyMom
New member
Delta F508 is considered a class two gene which results in an absence of CFTR from the membrane. I have not heard/read that the "milder" gene is necessarily the dominant gene.
Genes do a poor job of predicting clinical outcomes, as everyone has said.
You can have siblings with the same set of genes with dramatically different clinical outcomes. We have many people on this board with the same two mutations and different symptoms as well.
Everyone wants to know what the future holds, but unfortunately CF genes aren't reliable for fortune telling......
You can have siblings with the same set of genes with dramatically different clinical outcomes. We have many people on this board with the same two mutations and different symptoms as well.
Everyone wants to know what the future holds, but unfortunately CF genes aren't reliable for fortune telling......
Genes do a poor job of predicting clinical outcomes, as everyone has said.
You can have siblings with the same set of genes with dramatically different clinical outcomes. We have many people on this board with the same two mutations and different symptoms as well.
Everyone wants to know what the future holds, but unfortunately CF genes aren't reliable for fortune telling......
You can have siblings with the same set of genes with dramatically different clinical outcomes. We have many people on this board with the same two mutations and different symptoms as well.
Everyone wants to know what the future holds, but unfortunately CF genes aren't reliable for fortune telling......
Genes do a poor job of predicting clinical outcomes, as everyone has said.
You can have siblings with the same set of genes with dramatically different clinical outcomes. We have many people on this board with the same two mutations and different symptoms as well.
Everyone wants to know what the future holds, but unfortunately CF genes aren't reliable for fortune telling......
You can have siblings with the same set of genes with dramatically different clinical outcomes. We have many people on this board with the same two mutations and different symptoms as well.
Everyone wants to know what the future holds, but unfortunately CF genes aren't reliable for fortune telling......