ABCMdb

PMID: 15044340

Dempsey E, Barton DE, Ryan F
Detection of five common CFTR mutations by rapid-cycle real-time amplification refractory mutation system PCR.
Clin Chem. 2004 Apr;50(4):773-5., [PubMed]

Sentences

No. Mutations Sentence Comment

4 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Gly542* The five mutations [and the percentages of Irish (3) and worldwide (2) cases] are F508del (77.4%, 66.0%), G551D (7.1%, 1.6%), R117H (2.7%, 0.3%), 621ϩ1 GϾT (1.4%, 0.7%), and G542X (0.5%, 2.4%). Login to comment 5 ABCC7 p.Gly551Asp ABCC7 p.Gly542* Four of these fall into the severe class of mutations in which the mRNA is incorrectly spliced (621ϩ1 GϾT), or in which the protein is not synthesized (G542X) or is blocked during processing (F508del), or its regulation is blocked (G551D). Login to comment 20 ABCC7 p.Gly551Asp ABCC7 p.Arg117His The first reaction detects the G551D, R117H, and F508del mutations (87.2% frequency in Ireland, 67.9% worldwide). Login to comment 21 ABCC7 p.Phe508Cys ABCC7 p.Ile506Val The F508del ARMS primers (CF-DFjN and CF-DFwM) are specific for this mutation and are not influenced by the benign I506V and F508C mutations. Login to comment 23 ABCC7 p.Gly542* The second reaction detects the 621ϩ1 GϾT and G542X mutations (1.9% frequency in Ireland, 3.1% worldwide). Login to comment 26 ABCC7 p.Arg117His R117H and 621ϩ1 GϾT ARMS products are detectable by the CF4ARMS-A (5Ј- CCTTTTGTAGGAAGTCACCAAAGCAGTAC-F-3Ј) and CF4ARMS-P (5Ј-LCRed640-GCCTCTCTTACTGGGAA- GAATCA-P-3Ј) hybridization probes (F indicates a fluorescein, and P indicates phosphate). Login to comment 28 ABCC7 p.Gly551Asp ABCC7 p.Gly542* The CF11ARMS-A (5Ј-TAT- GATTACATTAGAAGGAAGATGTGCCTTT-F-3Ј) and CF11ARMS-P (5Ј-LCRed705-AATTCAGATTGAGCAT- ACT-P-3Ј) hybridization probes detect both the G551D and G542X ARMS products. Login to comment 53 ABCC7 p.Gly551Asp ABCC7 p.Arg117His Melting curve profile of a R117H/G551D compound heterozygote. Login to comment 54 ABCC7 p.Arg117His The F2 channel (top plot) detects both the wild-type and mutant F508del and R117H ARMS products with their respective peaks seen at ϳ51 and 62 °C. Login to comment 55 ABCC7 p.Gly551Asp The F3 channel (bottom plot) detects the G551D ARMS products with a peak seen at 55 °C. Login to comment