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genetics
- Question
- Does the presence of F508del and N1303K mutations mean the severe course of the disease?
- Answer
- Dear Questioner,
At the beginnig I should briefly clarify the terms "genotype" and "phenotype": The "genotyp" describes individual changes (mutations) in the human genome. Till now, more than 1400 different mutations in the so called “CF-gene” (localized on chromosom 7) have been identified. F508del is one of the most common mutations. "Genotype" can be determined only by molecular analysis.
"Phenotype" describes the clinically apparent disease. However, the course of the disease does not only depend on the CFTR genotype, it can be also modified by other genetic and non-genetic factors. Possible connections between specific "genotype" and "phenotype" have been examined in many CF clinical trials. In most cases a specific genotype could not be linked to a specific grade of disease severity.
However, F508del/N1303K genotype correlates rather with a more severe phenotype and, consequently, more severe course of disease.
Best regards, Natalia Kobelska-Dubiel MD, PhD - 01.02.2010
