PMID: 18249184

Socher E, Jarikote DV, Knoll A, Roglin L, Burmeister J, Seitz O
FIT probes: peptide nucleic acid probes with a fluorescent base surrogate enable real-time DNA quantification and single nucleotide polymorphism discovery.
Anal Biochem. 2008 Apr 15;375(2):318-30. Epub 2008 Jan 12., [PubMed]
Sentences
No. Mutations Sentence Comment
51 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 18249184:51:55
status: NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 18249184:51:41
status: NEW
view ABCC7 p.Gly542* details
Human genomic DNA samples containing the G542X and the G551D mutations were obtained from the Coriell Institute for Medical Research and stored in H2O at a concentration of 100 ng/ll at À80 °C. Login to comment
52 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 18249184:52:55
status: NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 18249184:52:41
status: NEW
view ABCC7 p.Gly542* details
Human genomic DNA samples containing the G542X and the G551D mutations were obtained from the Coriell Institute for Medical Research and stored in H2O at a concentration of 100 ng/ll at 80 &#b0;C. Login to comment
177 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 18249184:177:145
status: NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 18249184:177:135
status: NEW
view ABCC7 p.Gly542* details
In a paradigm study, we explored the usefulness of FIT probes by addressing the two most common cystic fibrosis single base mutations: G542X and G551D. Login to comment
178 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 18249184:178:145
status: NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 18249184:178:135
status: NEW
view ABCC7 p.Gly542* details
In a paradigm study, we explored the usefulness of FIT probes by addressing the two most common cystic fibrosis single base mutations: G542X and G551D. Login to comment
192 ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 18249184:192:51
status: NEW
view ABCC7 p.Gly542* details
For reasons of comparison, we chose to analyze the G542X mutation site by applying the well-established dual-labeled probe technology [20]. Login to comment
193 ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 18249184:193:51
status: NEW
view ABCC7 p.Gly542* details
For reasons of comparison, we chose to analyze the G542X mutation site by applying the well-established dual-labeled probe technology [20]. Login to comment
201 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 18249184:201:4
status: NEW
view ABCC7 p.Gly551Asp details
The G551D mutation was analyzed by using the wild-type-specific FIT probe 6gdc and the mutant-specific FIT probe 6ada targeted against the coding and noncoding strands, respectively (Table 2). Login to comment
202 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 18249184:202:4
status: NEW
view ABCC7 p.Gly551Asp details
The G551D mutation was analyzed by using the wild-type-specific FIT probe 6gdc and the mutant-specific FIT probe 6ada targeted against the coding and noncoding strands, respectively (Table 2). Login to comment
240 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 18249184:240:31
status: NEW
view ABCC7 p.Gly551Asp details
Allelic discrimination for the G551D mutation site in the CFTR gene provided by wild-type-specific FIT probe 6gdc (black line) and mutant-specific FIT probe 6ada (gray line). Login to comment
241 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 18249184:241:31
status: NEW
view ABCC7 p.Gly551Asp details
Allelic discrimination for the G551D mutation site in the CFTR gene provided by wild-type-specific FIT probe 6gdc (black line) and mutant-specific FIT probe 6ada (gray line). Login to comment
272 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 18249184:272:25
status: NEW
view ABCC7 p.Gly551Asp details
The qPCR analysis of the G551D mutation site in the CFTR gene demonstrated that seemingly less preferred sequence contexts (TO flanked by guanine and cytosine in probe 6gdc and paired against cytosine in probe 6ada) also provide the ability to make unambiguous SNP type calls. Login to comment
273 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 18249184:273:25
status: NEW
view ABCC7 p.Gly551Asp details
The qPCR analysis of the G551D mutation site in the CFTR gene demonstrated that seemingly less preferred sequence contexts (TO flanked by guanine and cytosine in probe 6gdc and paired against cytosine in probe 6ada) also provide the ability to make unambiguous SNP type calls. Login to comment
291 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 18249184:291:94
status: NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 18249184:291:84
status: NEW
view ABCC7 p.Gly542* details
The analysis of two important single nucleotide polymorphisms in the CFTR gene, the G542X and G551D mutations, confirmed the ability of Orn(TO) FIT probes to make unambiguous SNP calls for genomic DNA by qPCR. Login to comment
292 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 18249184:292:94
status: NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 18249184:292:84
status: NEW
view ABCC7 p.Gly542* details
The analysis of two important single nucleotide polymorphisms in the CFTR gene, the G542X and G551D mutations, confirmed the ability of Orn(TO) FIT probes to make unambiguous SNP calls for genomic DNA by qPCR. Login to comment