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5T-variant
- Question
- What means: ....the 5T-variant (IVS8: TG11-5T/TG11-7T) could be detected in the polypyridmidine tract in intron 8 of the CFTR gene in heterozygous condition.
Many thanks! - Answer
- Hello,
the detection of the 5T-variant (IVS8:TG11-5T/TG11-7T) in heterozygous condition can have a meaning concerning an atypical CF, in case one human being has inherited the 5T-variant from one parent and from the other parent has also inherited a change (mutation) in the CFTR-gene. The heterozygous state alone does not have a clinical meaning for the person (all parents of a CF patient are heterozygous for a CFTR-mutation, however are healthy themselves, that means do not suffer from CF, as those mutations are recessive).
The meaning of the molecular genetic investigation result should be explained to the patient or his parents in the frame of a genetic counselling according to the genetic diagnostic law. Here it can be answered only very generally.
Yours sincerely,
Prof. Stuhrmann-Spangenberg - 13.02.2011
