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I have a question

T

traxster

New member
I have been reading, and it uniformly says that a person has to inherit two genes, a copy from both parents, in order to have CF. So, my son has the 5t mutation, and we are waiting for the results from the Ambry Amplified to come back which, more than likely will show a CF mutation (I'm trying to have some peace about it now, before I'm told).

So, technically, he would just be a carrier. So would he then get a clinical diagnosis of CF, even if he won't have two copies?
 
T

traxster

New member
I have been reading, and it uniformly says that a person has to inherit two genes, a copy from both parents, in order to have CF. So, my son has the 5t mutation, and we are waiting for the results from the Ambry Amplified to come back which, more than likely will show a CF mutation (I'm trying to have some peace about it now, before I'm told).

So, technically, he would just be a carrier. So would he then get a clinical diagnosis of CF, even if he won't have two copies?
 
T

traxster

New member
I have been reading, and it uniformly says that a person has to inherit two genes, a copy from both parents, in order to have CF. So, my son has the 5t mutation, and we are waiting for the results from the Ambry Amplified to come back which, more than likely will show a CF mutation (I'm trying to have some peace about it now, before I'm told).
<br />
<br />So, technically, he would just be a carrier. So would he then get a clinical diagnosis of CF, even if he won't have two copies?
 
M

Mommafirst

Guest
For some reason (I can't explain -- maybe someone else can) the 5T variant functions like a mutation when present with another mutation. Thus having the 5T AND a mutation can be the same as having 2 mutations.
 
M

Mommafirst

Guest
For some reason (I can't explain -- maybe someone else can) the 5T variant functions like a mutation when present with another mutation. Thus having the 5T AND a mutation can be the same as having 2 mutations.
 
M

Mommafirst

Guest
For some reason (I can't explain -- maybe someone else can) the 5T variant functions like a mutation when present with another mutation. Thus having the 5T AND a mutation can be the same as having 2 mutations.
 
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