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Cftr Dele2,3
- Question
- Which mutation class does Cftr dele 2,3 belong to?
- Answer
- Hello,
CFTRdle2,3(21kb) is an out-of-frame deletion and therefore a severe class I mutation. To explain this:
The CFTRdele2,3(21kb) deletion causes the messenger ribonucleic acid (mRNA) of the CFTR gene to lose two of the 27 coding units called exons. The lack of these two exons (numbers 2 and 3, hence the name of the mutation dele2,3) therefore means first of all that the messenger ribonucleic acid is shortened. In addition, during the translation of this shortened message into a protein molecule, the cell's translation apparatus hits a so-called stopp codon in the exon no.4, which follows the deletion and codes for the protein end. The resulting CFTR protein would thus be strongly shortened and therefore inoperable. You can assign the CFTRdele2,3(21kb) deletion to the class of severe mutations without functioning CFTR proteine (such as the G542X stopp mutation which, like CFTRdele2,3(21kb), is also a typical class I mutation).
Kind regards,
Dr. Frauke Stanke - 29.10.2009
