ABCMdb

PMID: 15860566

Krafft AE, Lichy JH
Time-motion analysis of 6 cystic fibrosis mutation detection systems.
Clin Chem. 2005 Jul;51(7):1116-22. Epub 2005 Apr 28., [PubMed]

Sentences

No. Mutations Sentence Comment

43 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Ile148Thr ABCC7 p.Arg560Thr These included 58 patient DNA samples initially characterized by CF Gold 1.0, of which 28 were wild type and 30 contained 1 of the following 16 mutant alleles: F508del, R553X, 2184delA, 3120 ϩ 1GϾA, I507del, G542X, G551D, W1282X, N1303K, 621 ϩ 1GϾT, R117H, 1717-1GϾA, R560T, R334W, R347P, and I148T. Login to comment 50 ABCC7 p.Ile506Val ABCC7 p.Ile507Val CFTR mutation detection system OLA, Ver. 3 INNO-LiPA CF Gold 1.0 Tag-It CF 40 ؉ 4 CF eMAP/ Bead Chip Invader Source Abbott (ABI/ Celera) Innogenetics Roche TM Biosciences BioArray Solutions Third Wave Assay type OLA Reverse slot-blot ASOa Reverse slot-blot ASO ASPE ASPE Invader technology Enzymatic reactions (n) Multiplex PCR (1); OLA (1) Multiplex PCR (2); SA-HRP (1) Multiplex PCR (1); SA-HRP (1) Multiplex PCR (1); Exo-SAP (1); ASPE (1) Multiplex PCR (1); Exo-SAP (2); ASPE (1) Cleavase (6) Special equipment ABI 3100 capillary electrophoresis Auto-LiPA I Gemini Twin shaking water bath Luminex 100 Array imaging system Tecan GENios plate reader Additional Mutations 7 11 6 16 12 Polymorphisms 5/7/9T 5/7/9T 5/7/9T Reflex tests required 5/7/9T Yes Nob Nob Nob Yes Yes I506V/I507V Yes Noc No No No Yes Automated allele calling Yes No No Yes Yes No a ASO, allele-specific oligonucleotides; SA-HRP, streptavidin-conjugated horseradish peroxidase; Exo-SAP, exonuclease plus shrimp alkaline phosphatase digestion. Login to comment 169 ABCC7 p.Ile148Thr The INNO-LiPA was the only system to test for the 3199del6 allele, which is now believed to be the pathogenic mutation that occurs on a haplotype with I148T (4). Login to comment 170 ABCC7 p.Arg117His The systems also differed in requirements for reflex testing for F508del homozygosity and R117H. Login to comment 172 ABCC7 p.Arg117His In the case of R117H, the OLA and eMAP assays require a separate reflex test, whereas the INNO-LiPA, CF Gold, and Tag-IT systems do not. Login to comment