Apparent Homozygosity of p.Phe508del in CFTR due to a Large Gene Deletion of Exons 4–11
Figure 2
Multiple ligation probe amplification (MLPA) profiles using probe mixture mix P091-C1 CFTR (MRC-Holland). Red arrows showing the same deleted probes in the patient and his father in the CFTR gene. Nine probes are found to be deleted corresponding to a deletion size of 28.7 kb. Green arrows show the p.Phe508WT probe (CFTR probe 03322-L14978) which in the patient displayed no amplification due to the presence of the exonic deletion and the p.Phe508del mutation.
