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Gene sequence
- Question
- My husband was tested for CF at Horemion. According to the answer we received the results are not indicative of any presentation of a CF mutation, but one change was detected in the sequence of the CFTR gene (2752-15G/C), which, due to its location, is considered neutral without any pathological consequences.
Can my daughter, who is a simple carrier of the DF508 mutaion, carry this sequence as well, and not suffer from CF?
- Answer
- Dear friend,
Your daughter may carry this altered sequence/mutation, and still be a simple carrier of both mutations and not suffer from CF, because, as is already mentioned in the answer you received, this altered sequence is considered neutral, without any pathological consequences, i.e. presentation of CF.
Yours friendly,
Dr. Stavros Doudounakis
- 14.11.2011
