3 mutations

anonymous

New member
do anyone know what means to have 3 mutations? My baby has it....they want my husband and I to do some cromossome test..one of the mutations was never recorded before. does it mean that my son's case is more severe??thanks for the attentionval
 

Drea

New member
Oops!Ok, I am a bit confused today.How does your child have 3 mutations for CF? each parent can only give one mutation, if one of the parents has 2 mutations then by definition, that parent must have CF but they can still only give one mutation to the child............ Maybe Try going to http://groups.msn.com/TeamRachelJane and look on our basic genetics page to find out how CF is passed on. Could it be that your child has a mutation for something else? hope this helps. and let us know what they mean.Andrea
 

anonymous

New member
I understood what u said...I know about cf genetics, but I will visit your site again ( by the way...your girl is really cutie)....but when they did the "blood test", they found in the cromossome 7 another mutation...what it means I don;'t know....The doctor said that it was affecting some protein fuction. And maybe, the mutation fisrt happen on my son...I mean,it is possible that my husband and I don't have this mutation...so what did cause it? and what are the consequences of this new mutation on the CF pair or the diase per se....anyway...the doctor seems to conect this mutation to cf. It is complicated...and I think doctors don't like to talk about what they are not really sure...I notice that he is anxious to us to do a cromossome test too. But we don't know if our insurance would cover it...and we don't have $$ to pay...so we will wait...thank u for the answer
 

serendipity730

New member
It is possible that the 3rd mutation is benign. You or your husband could have this mutation and have no symptoms - that is why they want to do chromosome testing on you and your husband. What were the other mutations they said your child had?~ Mar
 

anonymous

New member
the only one I remember is the usual one...I guess F508 ( not sure)....and one of them was never recorded before.....I was thinking...it would mean that my son has cf and is a carrier...wow...probability of it prolly is really low...I will ask details to the doctor next clinic. maybe next week coz my son has been weezing a lot, breathing hard and coughing more than normal. I will get a copy of the test...so it would be easier to give the information.val
 
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