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Spontaneous Mutation
- Thread starter vmhoward
- Start date
StevenKeiles
New member
Well it is nice to have a molecular biologist amonst the group. Now I have to make sure I am on my toes. Spontaneous mutations or de novo mutation do occur in all diseases. In some genes it is more common. About 1/3 of all cases of Duchennes muscular dystropy and hemophilia are caused by de novo mutations. In CF it is generally considered extremely rare. However, based on my experience I would say this is not that rare. I know if two cases, which out of only a few thousand cases with family studies would be an extrememly high mutation rate. As I said in an earlier post, 1 in 10,000 would be considered a high rate.
It is also possible that a deletion could be present and make a mutation appear as a homozygote, It is also very likely that your husband does carry another mutation. We have seen this happen in many families and I would say if there is another mutation in the family this is the most likely scenario.
Steve
It is also possible that a deletion could be present and make a mutation appear as a homozygote, It is also very likely that your husband does carry another mutation. We have seen this happen in many families and I would say if there is another mutation in the family this is the most likely scenario.
Steve
StevenKeiles
New member
Well it is nice to have a molecular biologist amonst the group. Now I have to make sure I am on my toes. Spontaneous mutations or de novo mutation do occur in all diseases. In some genes it is more common. About 1/3 of all cases of Duchennes muscular dystropy and hemophilia are caused by de novo mutations. In CF it is generally considered extremely rare. However, based on my experience I would say this is not that rare. I know if two cases, which out of only a few thousand cases with family studies would be an extrememly high mutation rate. As I said in an earlier post, 1 in 10,000 would be considered a high rate.
It is also possible that a deletion could be present and make a mutation appear as a homozygote, It is also very likely that your husband does carry another mutation. We have seen this happen in many families and I would say if there is another mutation in the family this is the most likely scenario.
Steve
It is also possible that a deletion could be present and make a mutation appear as a homozygote, It is also very likely that your husband does carry another mutation. We have seen this happen in many families and I would say if there is another mutation in the family this is the most likely scenario.
Steve
StevenKeiles
New member
Well it is nice to have a molecular biologist amonst the group. Now I have to make sure I am on my toes. Spontaneous mutations or de novo mutation do occur in all diseases. In some genes it is more common. About 1/3 of all cases of Duchennes muscular dystropy and hemophilia are caused by de novo mutations. In CF it is generally considered extremely rare. However, based on my experience I would say this is not that rare. I know if two cases, which out of only a few thousand cases with family studies would be an extrememly high mutation rate. As I said in an earlier post, 1 in 10,000 would be considered a high rate.
It is also possible that a deletion could be present and make a mutation appear as a homozygote, It is also very likely that your husband does carry another mutation. We have seen this happen in many families and I would say if there is another mutation in the family this is the most likely scenario.
Steve
It is also possible that a deletion could be present and make a mutation appear as a homozygote, It is also very likely that your husband does carry another mutation. We have seen this happen in many families and I would say if there is another mutation in the family this is the most likely scenario.
Steve
StevenKeiles
New member
Well it is nice to have a molecular biologist amonst the group. Now I have to make sure I am on my toes. Spontaneous mutations or de novo mutation do occur in all diseases. In some genes it is more common. About 1/3 of all cases of Duchennes muscular dystropy and hemophilia are caused by de novo mutations. In CF it is generally considered extremely rare. However, based on my experience I would say this is not that rare. I know if two cases, which out of only a few thousand cases with family studies would be an extrememly high mutation rate. As I said in an earlier post, 1 in 10,000 would be considered a high rate.
It is also possible that a deletion could be present and make a mutation appear as a homozygote, It is also very likely that your husband does carry another mutation. We have seen this happen in many families and I would say if there is another mutation in the family this is the most likely scenario.
Steve
It is also possible that a deletion could be present and make a mutation appear as a homozygote, It is also very likely that your husband does carry another mutation. We have seen this happen in many families and I would say if there is another mutation in the family this is the most likely scenario.
Steve
StevenKeiles
New member
Well it is nice to have a molecular biologist amonst the group. Now I have to make sure I am on my toes. Spontaneous mutations or de novo mutation do occur in all diseases. In some genes it is more common. About 1/3 of all cases of Duchennes muscular dystropy and hemophilia are caused by de novo mutations. In CF it is generally considered extremely rare. However, based on my experience I would say this is not that rare. I know if two cases, which out of only a few thousand cases with family studies would be an extrememly high mutation rate. As I said in an earlier post, 1 in 10,000 would be considered a high rate.
It is also possible that a deletion could be present and make a mutation appear as a homozygote, It is also very likely that your husband does carry another mutation. We have seen this happen in many families and I would say if there is another mutation in the family this is the most likely scenario.
Steve
It is also possible that a deletion could be present and make a mutation appear as a homozygote, It is also very likely that your husband does carry another mutation. We have seen this happen in many families and I would say if there is another mutation in the family this is the most likely scenario.
Steve
StevenKeiles
New member
Well it is nice to have a molecular biologist amonst the group. Now I have to make sure I am on my toes. Spontaneous mutations or de novo mutation do occur in all diseases. In some genes it is more common. About 1/3 of all cases of Duchennes muscular dystropy and hemophilia are caused by de novo mutations. In CF it is generally considered extremely rare. However, based on my experience I would say this is not that rare. I know if two cases, which out of only a few thousand cases with family studies would be an extrememly high mutation rate. As I said in an earlier post, 1 in 10,000 would be considered a high rate.
It is also possible that a deletion could be present and make a mutation appear as a homozygote, It is also very likely that your husband does carry another mutation. We have seen this happen in many families and I would say if there is another mutation in the family this is the most likely scenario.
Steve
It is also possible that a deletion could be present and make a mutation appear as a homozygote, It is also very likely that your husband does carry another mutation. We have seen this happen in many families and I would say if there is another mutation in the family this is the most likely scenario.
Steve
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>vmhoward</b></i>
my son, not my daughter, (although my daughter is also a carrier) is a carrier for DF508</end quote></div>
Victoria I think okok was asking me since I hijacked your thread with my own fears about my daughter. The answer is we don't know her carrier status because literally 3 adults could not hold her down for the blood draw. It was so traumatic for her that I have been afraid to try again. Doc doesn't care about it enough to prescribe a baby valium or something to get the blood draw done (her sweat test was a 34).
Anyway Victoria back to you; let us know!
my son, not my daughter, (although my daughter is also a carrier) is a carrier for DF508</end quote></div>
Victoria I think okok was asking me since I hijacked your thread with my own fears about my daughter. The answer is we don't know her carrier status because literally 3 adults could not hold her down for the blood draw. It was so traumatic for her that I have been afraid to try again. Doc doesn't care about it enough to prescribe a baby valium or something to get the blood draw done (her sweat test was a 34).
Anyway Victoria back to you; let us know!
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>vmhoward</b></i>
my son, not my daughter, (although my daughter is also a carrier) is a carrier for DF508</end quote></div>
Victoria I think okok was asking me since I hijacked your thread with my own fears about my daughter. The answer is we don't know her carrier status because literally 3 adults could not hold her down for the blood draw. It was so traumatic for her that I have been afraid to try again. Doc doesn't care about it enough to prescribe a baby valium or something to get the blood draw done (her sweat test was a 34).
Anyway Victoria back to you; let us know!
my son, not my daughter, (although my daughter is also a carrier) is a carrier for DF508</end quote></div>
Victoria I think okok was asking me since I hijacked your thread with my own fears about my daughter. The answer is we don't know her carrier status because literally 3 adults could not hold her down for the blood draw. It was so traumatic for her that I have been afraid to try again. Doc doesn't care about it enough to prescribe a baby valium or something to get the blood draw done (her sweat test was a 34).
Anyway Victoria back to you; let us know!
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>vmhoward</b></i>
my son, not my daughter, (although my daughter is also a carrier) is a carrier for DF508</end quote></div>
Victoria I think okok was asking me since I hijacked your thread with my own fears about my daughter. The answer is we don't know her carrier status because literally 3 adults could not hold her down for the blood draw. It was so traumatic for her that I have been afraid to try again. Doc doesn't care about it enough to prescribe a baby valium or something to get the blood draw done (her sweat test was a 34).
Anyway Victoria back to you; let us know!
my son, not my daughter, (although my daughter is also a carrier) is a carrier for DF508</end quote></div>
Victoria I think okok was asking me since I hijacked your thread with my own fears about my daughter. The answer is we don't know her carrier status because literally 3 adults could not hold her down for the blood draw. It was so traumatic for her that I have been afraid to try again. Doc doesn't care about it enough to prescribe a baby valium or something to get the blood draw done (her sweat test was a 34).
Anyway Victoria back to you; let us know!
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>vmhoward</b></i>
my son, not my daughter, (although my daughter is also a carrier) is a carrier for DF508</end quote></div>
Victoria I think okok was asking me since I hijacked your thread with my own fears about my daughter. The answer is we don't know her carrier status because literally 3 adults could not hold her down for the blood draw. It was so traumatic for her that I have been afraid to try again. Doc doesn't care about it enough to prescribe a baby valium or something to get the blood draw done (her sweat test was a 34).
Anyway Victoria back to you; let us know!
my son, not my daughter, (although my daughter is also a carrier) is a carrier for DF508</end quote></div>
Victoria I think okok was asking me since I hijacked your thread with my own fears about my daughter. The answer is we don't know her carrier status because literally 3 adults could not hold her down for the blood draw. It was so traumatic for her that I have been afraid to try again. Doc doesn't care about it enough to prescribe a baby valium or something to get the blood draw done (her sweat test was a 34).
Anyway Victoria back to you; let us know!
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>vmhoward</b></i>
my son, not my daughter, (although my daughter is also a carrier) is a carrier for DF508</end quote>
Victoria I think okok was asking me since I hijacked your thread with my own fears about my daughter. The answer is we don't know her carrier status because literally 3 adults could not hold her down for the blood draw. It was so traumatic for her that I have been afraid to try again. Doc doesn't care about it enough to prescribe a baby valium or something to get the blood draw done (her sweat test was a 34).
Anyway Victoria back to you; let us know!
my son, not my daughter, (although my daughter is also a carrier) is a carrier for DF508</end quote>
Victoria I think okok was asking me since I hijacked your thread with my own fears about my daughter. The answer is we don't know her carrier status because literally 3 adults could not hold her down for the blood draw. It was so traumatic for her that I have been afraid to try again. Doc doesn't care about it enough to prescribe a baby valium or something to get the blood draw done (her sweat test was a 34).
Anyway Victoria back to you; let us know!
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>vmhoward</b></i>
my son, not my daughter, (although my daughter is also a carrier) is a carrier for DF508</end quote>
Victoria I think okok was asking me since I hijacked your thread with my own fears about my daughter. The answer is we don't know her carrier status because literally 3 adults could not hold her down for the blood draw. It was so traumatic for her that I have been afraid to try again. Doc doesn't care about it enough to prescribe a baby valium or something to get the blood draw done (her sweat test was a 34).
Anyway Victoria back to you; let us know!
my son, not my daughter, (although my daughter is also a carrier) is a carrier for DF508</end quote>
Victoria I think okok was asking me since I hijacked your thread with my own fears about my daughter. The answer is we don't know her carrier status because literally 3 adults could not hold her down for the blood draw. It was so traumatic for her that I have been afraid to try again. Doc doesn't care about it enough to prescribe a baby valium or something to get the blood draw done (her sweat test was a 34).
Anyway Victoria back to you; let us know!