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PMID: 10756209
Lishanski A, Kurn N, Ullman EF
Branch migration inhibition in PCR-amplified DNA: homogeneous mutation detection.
Nucleic Acids Res. 2000 May 1;28(9):E42., 2000-05-01
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
106
ABCC7 p.Phe508Cys
X
ABCC7 p.Phe508Cys 10756209:106:501
status:
NEW
view ABCC7 p.Phe508Cys details
ABCC7 p.Phe508Cys
X
ABCC7 p.Phe508Cys 10756209:106:560
status:
NEW
view ABCC7 p.Phe508Cys details
Genotype LOCI without reference DNA LOCI with reference DNA ELISA without reference DNA Wild-type homozygotes wt/wt 2.5 (2.1) 2.3 9.4 wt/wt 2.3 (3.2) 2.9 7.4 wt/wt 2.4 (2.4) 3.7 8.2 wt/wt 2.1 (2.7) 3.1 7.6 Heterozygotes ∆F508/wt 3 bp deletion 61 (100) 53 63 ∆F508/wt 3 bp deletion 105 (109) 102 102 ∆F508/wt 3 bp deletion 110 (114) 94 108 ∆F508/wt 3 bp deletion 138 (147) 119 136 ∆I508/wt 3 bp deletion 107 (76) 96 116 F580C/wt T→G 95 (57) 87 92 ∆F508/
F508C
3 bp deletion/T→G 93 (85) 139 97 ∆F508/
F508C
3 bp deletion/T→G 90 (113) 111 86 Mutant homozygotes ∆F508/∆F508 3 bp deletion 2.6 (3.2) 149 6.7 ∆F508/∆F508 3 bp deletion 2.0 (3.2) 184 7.4 ∆F508/∆F508 3 bp deletion 2.4 (2.1) 181 7.8 ∆F508/∆F508 3 bp deletion 2.2 (3.0) 212 7.9 Blank (no target DNA) 1.2 6.7 v sample and re-measured to identify homozygous mutants (homozygote screen).
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126
ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 10756209:126:268
status:
NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 10756209:126:299
status:
NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 10756209:126:460
status:
NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 10756209:126:508
status:
NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 10756209:126:330
status:
NEW
view ABCC7 p.Arg553* details
ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 10756209:126:361
status:
NEW
view ABCC7 p.Arg553* details
ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 10756209:126:466
status:
NEW
view ABCC7 p.Arg553* details
ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 10756209:126:514
status:
NEW
view ABCC7 p.Arg553* details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 10756209:126:206
status:
NEW
view ABCC7 p.Gly542* details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 10756209:126:237
status:
NEW
view ABCC7 p.Gly542* details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 10756209:126:575
status:
NEW
view ABCC7 p.Gly542* details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 10756209:126:581
status:
NEW
view ABCC7 p.Gly542* details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 10756209:126:612
status:
NEW
view ABCC7 p.Gly542* details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 10756209:126:618
status:
NEW
view ABCC7 p.Gly542* details
ABCC7 p.Arg560Thr
X
ABCC7 p.Arg560Thr 10756209:126:393
status:
NEW
view ABCC7 p.Arg560Thr details
ABCC7 p.Arg560Thr
X
ABCC7 p.Arg560Thr 10756209:126:426
status:
NEW
view ABCC7 p.Arg560Thr details
Genotype Without reference DNA With reference DNA Wild-type homozygotes wt/wt 1.4 (1.2) 2.4 wt/wt 1.6 (1.3) 2.1 wt/wt 2.0 (1.5) 2.4 wt/wt 2.1 (1.4) 2.0 wt/wt 1.6 (1.2) 3.2 wt/wt 1.7 (1.4) 1.5 Heterozygotes
G542X
/wt G→T 41 (42) 38
G542X
/wt G→T 73 (90) 66
G551D
/wt G→A 83 (84) 93
G551D
/wt G→A 99 (69) 76
R553X
/wt C→T 92 (84) 57
R553X
/wt C→T 105 (95) 61
R560T
/wt G→C 130 (123) 70
R560T
/wt G→C 109 (135) 111
G551D
/
R553X
G→A/C→T 134 (134) 193
G551D
/
R553X
G→A/C→T 134 (144) 235 Mutant homozygotes
G542X
/
G542X
G→T 1.5 (1.4) 174
G542X
/
G542X
G→T 1.4 (1.5) 133 Blank (no target DNA) 1.6 Figure 3.
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139
ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 10756209:139:126
status:
NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 10756209:139:142
status:
NEW
view ABCC7 p.Arg553* details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 10756209:139:109
status:
NEW
view ABCC7 p.Gly542* details
ABCC7 p.Arg560Thr
X
ABCC7 p.Arg560Thr 10756209:139:157
status:
NEW
view ABCC7 p.Arg560Thr details
Genotype Without εAεAG With εAεAG wt/wt 37 1.4 wt/wt 39 1.4 wt/wt 41 1. wt/wt 41 1.5
G542X
/wt 121 126
G551D
/wt 100 93
R553X
/wt 82 85
R560T
/wt 97 96 vi A PCR modification similar to the use of nested primers provided a powerful alternative method for reducing background signals.
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