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PMID: 17375191
Daksis JI, Erikson GH
Heteropolymeric triplex-based genomic assay to detect pathogens or single-nucleotide polymorphisms in human genomic samples.
PLoS One. 2007 Mar 21;2(3):e305.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
125
ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 17375191:125:666
status:
NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 17375191:125:718
status:
NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Ala455Glu
X
ABCC7 p.Ala455Glu 17375191:125:1102
status:
NEW
view ABCC7 p.Ala455Glu details
ABCC7 p.Ala455Glu
X
ABCC7 p.Ala455Glu 17375191:125:1154
status:
NEW
view ABCC7 p.Ala455Glu details
ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 17375191:125:1524
status:
NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 17375191:125:1577
status:
NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 17375191:125:1312
status:
NEW
view ABCC7 p.Asn1303Lys details
ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 17375191:125:1365
status:
NEW
view ABCC7 p.Asn1303Lys details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 17375191:125:1207
status:
NEW
view ABCC7 p.Gly542* details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 17375191:125:1259
status:
NEW
view ABCC7 p.Gly542* details
ABCC7 p.Arg1162*
X
ABCC7 p.Arg1162* 17375191:125:881
status:
NEW
view ABCC7 p.Arg1162* details
ABCC7 p.Arg1162*
X
ABCC7 p.Arg1162* 17375191:125:934
status:
NEW
view ABCC7 p.Arg1162* details
ABCC7 p.Arg560Thr
X
ABCC7 p.Arg560Thr 17375191:125:1419
status:
NEW
view ABCC7 p.Arg560Thr details
ABCC7 p.Arg560Thr
X
ABCC7 p.Arg560Thr 17375191:125:1471
status:
NEW
view ABCC7 p.Arg560Thr details
Sequence bglIR-WT25C 1 59-TATTTTGATTATAGGACATGAAGAT-39 DR01-WT15 2 59-GAGCCGAAGGGGCAG-39 CFTR delta F508-WT25C 3 59-TAGGAAACACCAAAGATGATATTTT-39 CFTR delta F508-MUT25C 4 59-ATAGGAAACACCA---ATGATATTTTCT-39 CFTR delta I507-WT25C 5 59-TAGGAAACACCAAAGATGATATTTT-39 CFTR delta I507-MUT25C 6 59-ATAGGAAACACCAAAGA---TATTTTCT-39 CFTR 3659delC-WT25C 7 59-TGGTTTGGTTGACTTGGTAGGTTTA-39 CFTR 3659delC-MUT25C 8 59-ATGGTTTGGTTGACTTG-TAGGTTTA-39 CFTR 3849+10kbCRT-WT25C 9 59-GTGTCTTACTCGCCATTTTAATACT-39 CFTR 3849+10kbCRT-MUT25C 10 59-GTGTCTTACTCACCATTTTAATACT-39 CFTR 2789+5GRA-WT25C11 59-AATAGGACATGGAATACTCACTTTC-39 CFTR 2789+5GRA-MUT25C 12 59-AATAGGACATGGAATATTCACTTTC-39 CFTR
G551D
-WT25C 13 59-ATTCTTGCTCGTTGACCTCCACTCA-39 CFTR
G551D
-MUT25C 14 59-ATTCTTGCTCGTTGATCTCCACTCA-39 CFTR 621+1GRT-WT25C 15 59-AAGTATTACCTTCTTATAAATCAAA-39 CFTR 621+1GRT-MUT25C16 59-AAGTATTAACTTCTTATAAATCAAA-39 CFTR
R1162X
-WT25C 17 59-AACTTAAAGACTCGGCTCACAGATC-39 CFTR
R1162X
-MUT25C 18 59-AACTTAAAGACTCAGCTCACAGATC-39 CFTR 1717-1GRA-WT25C 19 59-TGGAGATGTCCTATTACCAAAAATA-39 CFTR 1717-1GRA- MUT25C 20 59-TGGAGATGTCTTATTACCAAAAATA-39 CFTR
A455E
-WT25C 21 59-CCAGCAACCGCCAACAACTGTCCTC-39 CFTR
A455E
-MUT25C 22 59-CCAGCAACCTCCAACAACTGTCCTC-39 CFTR
G542X
-WT25C 23 59-ATTCCACCTTCTCCAAGAACTATAT-39 CFTR
G542X
-MUT25C 24 59-ATTCCACCTTCTCAAAGAACTATAT-39 CFTR
N1303K
-WT25C 25 59-TAGGGATCCAAGTTTTTTCTAAATG-39 CFTR
N1303K
-MUT25C 26 59-TAGGGATCCAACTTTTTTCTAAATG-39 CFTR
R560T
-WT25C 27 59-AGTTATTCACCTTGCTAAAGAAATT-39 CFTR
R560T
-MUT25C 28 59-AGTTATTCACGTTGCTAAAGAAATT-39 CFTR
W1282X
-WT25C 29 59-TTTCCTCCACTGTTGCAAAGTTATT-39 CFTR
W1282X
-MUT25C 30 59-TTTCCTTCACTGTTGCAAAGTTATT-39 MTHFR C677T-WT25C 31 59-TGATGATGAAATCGGCTCCCGCAGA-39 MTHFR C677T-MUT25C 32 59-TGATGATGAAATCGACTCCCGCAGA-39 FVL G1691A-WT25C 33 59-CCCTCTGTATTCCTCGCCTGTCCAG-39 FVL G1691A-MUT25C 34 59-CCCTCTGTATTCCTTGCCTGTCCAG-39 All 25-mer probes listed were antisense.
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704
ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 17375191:704:395
status:
NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Ala455Glu
X
ABCC7 p.Ala455Glu 17375191:704:552
status:
NEW
view ABCC7 p.Ala455Glu details
ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 17375191:704:701
status:
NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 17375191:704:626
status:
NEW
view ABCC7 p.Asn1303Lys details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 17375191:704:589
status:
NEW
view ABCC7 p.Gly542* details
ABCC7 p.Arg1162*
X
ABCC7 p.Arg1162* 17375191:704:473
status:
NEW
view ABCC7 p.Arg1162* details
ABCC7 p.Arg560Thr
X
ABCC7 p.Arg560Thr 17375191:704:664
status:
NEW
view ABCC7 p.Arg560Thr details
Mutation Source Number of tests Percentage GC in probe sequence Percentage difference of mismatched TAF relative to perfect match TAF CFTR delta F508 blood 102 28% 2100% to 281% CFTR delta I507 blood 6 28% 2100% to 285% CFTR 3659delC blood 11 40% 2100% to 255% CFTR 3849+10kbCRT blood 9 36% 2100% to 282% CFTR 2789+5GRA blood 16 36% 2100% to 275% CFTR 2789+5GRA saliva 13 36% 2100% to 266% CFTR
G551D
blood 11 48% 2100% to 261% CFTR 621+1GRT blood 5 20% 2100% to 257% CFTR
R1162X
blood 6 44% 267% to 236% CFTR 1717-1GRA blood 12 32% 2100% to 258% CFTR
A455E
blood 9 60% 2100% to 289% CFTR
G542X
blood 6 36% 2100% to 260% CFTR
N1303K
blood 8 32% 2100% to 283% CFTR
R560T
blood 6 28% 2100% to 254% CFTR
W1282X
blood 14 36% 2100% to 274% MTHFR C677T blood 55 52% 2100% to 272% FVL G1691A blood 34 60% 2100% to 281% TAF indicates Triplex-Associated Fluorescence. doi:10.1371/journal.pone.0000305.t004 ..................................................................................... brighter when intercalated into complexes of identical short oligonucleotides, such as the probes used in our assay, than when a like number of YOYO-1 molecules were in the presence of genomic duplex DNA.
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