ABCMdb

PMID: 20190016

Faa' V, Coiana A, Incani F, Costantino L, Cao A, Rosatelli MC
A synonymous mutation in the CFTR gene causes aberrant splicing in an italian patient affected by a mild form of cystic fibrosis.
J Mol Diagn. 2010 May;12(3):380-3. Epub 2010 Feb 26., [PubMed]

Sentences

No. Mutations Sentence Comment

25 ABCC7 p.Trp1282* As the patient`s parents were not available, to define the phase of the W1282X and 2811 GϾT mutations, extra-long PCR was performed in patient`s cDNA using GeneAmp XL PCR kit (Applera), according to the manufacturer`s instructions. Login to comment 28 ABCC7 p.Trp1282* Results After an extensive second level molecular screening (ie, direct sequencing for searching of point mutations and multiplex ligation-dependent probe amplification for detection of large rearrangements) was performed at the DNA level on 441 unrelated Italian CF patients, we selected one patient in which we detected the W1282X mutation and the synonymous mutation 2811 GϾT. Login to comment 37 ABCC7 p.Trp1282* As patient`s parents were not available, we performed, in patient`s cDNA, extra-long PCR spanning exons 14b-21 in order to define the phase of the 2811GϾT and W1282X mutations. Login to comment 39 ABCC7 p.Trp1282* Sequence analysis showed the presence of the W1282X mutation in the 1124-bp fragments. Login to comment 41 ABCC7 p.Trp1282* These results indicate that the 2811GϾT and W1282X mutations are in trans. Login to comment