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polymorphism
- Question
- Is there a relationship between the type of polymorphism detected in the patient and severity of cystic fibrosis? Our child has detected delta F508 heterozygous with 7T-9Tpolymorphisms and heterozygous R1070W. Thank you!
- Answer
- Hello,
Your child has a heterozygous genotype delta F508/R1070W, which definitely confirming the presence of cystic fibrosis; statistically this combination is responsible for "mild" phenotypes (mild symptoms and signs). The polymorphism 7T-9T detected does not interfere in the clinical picture, at least for your child's situation in which both mutations are detected, as mentioned.
Sincerely,
Liviu Pop Prof.Dr - 02.01.2012
