PMID: 7526344

Grossman PD, Bloch W, Brinson E, Chang CC, Eggerding FA, Fung S, Iovannisci DM, Woo S, Winn-Deen ES
High-density multiplex detection of nucleic acid sequences: oligonucleotide ligation assay and sequence-coded separation.
Nucleic Acids Res. 1994 Oct 25;22(21):4527-34., [PubMed]
Sentences
No. Mutations Sentence Comment
50 ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 7526344:50:43
status: NEW
view ABCC7 p.Gly542* details
These included GM07224 (normal), GM11496B (G542X homozygote), and GM11274 (D551/AF508). Login to comment
55 ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 7526344:55:193
status: NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 7526344:55:139
status: NEW
view ABCC7 p.Arg553* details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 7526344:55:121
status: NEW
view ABCC7 p.Gly542* details
ABCC7 p.Ser549Asn
X
ABCC7 p.Ser549Asn 7526344:55:75
status: NEW
view ABCC7 p.Ser549Asn details
ABCC7 p.Ser549Asn
X
ABCC7 p.Ser549Asn 7526344:55:84
status: NEW
view ABCC7 p.Ser549Asn details
ABCC7 p.Ser549Asn
X
ABCC7 p.Ser549Asn 7526344:55:94
status: NEW
view ABCC7 p.Ser549Asn details
ABCC7 p.Arg560Thr
X
ABCC7 p.Arg560Thr 7526344:55:214
status: NEW
view ABCC7 p.Arg560Thr details
ABCC7 p.Arg560Thr
X
ABCC7 p.Arg560Thr 7526344:55:223
status: NEW
view ABCC7 p.Arg560Thr details
Probes for multiplex CF OLA assay CF Locus S549R2-WT S549R2-MUT S549R2-COM S549N WT S549N-MUT S549N-COM G542-WT G542-MUT G542X-COM R553-WT R553X-MUT R553-COM G551-WT G55ID-MUT G55ICOM W1282-WT W1282X-MUT W1282-COM R560T-WT R560T-MUT R560-COM 1717-WT 1717-MUT 1717-COM 3905-WT 39O51NST-MUT 3905-COM Sequence (5'-3') (HEO)2-TTGCTCGTTGACCTCCA (HEO)3-TTGCTCGTTGACCTCCC PO4-CTCAGTGTGATTCCACCT-FAM (HEO)4-TGCTCGTTGACCTCCAC (HEO)5-TGCTCGTTGACCTCCAT PO4-TCAGTGTGATTCCACCTTC-FAM (HEO)6-GTGATTCCACCTTCTCC (HEO)7-GTGATTCCACCTTCTCA PO4-AAGAACTATATTGTCTTTCTCT-FAM (HEO)8-TGCTAAAGAAATTCTTGCTCG (HEO)9-TTGCTAAAGAAATTCTTGCTCA PO4-TTGACCTCCACTCAGTGTGA-FAM (HEO)IO-TAAAGAAATTCTTGCTCGTTGAC (HEO)11-TAAAGAAATTCTTGCTCGTTGAT PO4-CTCCACTCAGTGTGATTCCA-FAM (HEO) 12-TATCACTCCAA AGGCTTTCCTC (HEO) 13-TATCACTCCAAAGGCTTTCCTT PO4-CACTGTTGCAAAGTTATTGAATCC-FAM (HEO)14-TAGACCAATAATTAGTTATTCACC (HEO)15-TAGACCAATAATTAGTTATTCACG PO4-TTGCTAAAGAAATTCTTGCTCG-FAM (HEO) 16-TCTGCAAACTTGG AGATGTCC (HEO) 17-TCTGCAAACTTGGAGATGTCT PO4-TATTACCAAAAATAGAAAATTAGAGA-FAM (HEO) 18-A AGAGTACTTTGTTATCAGCTTTTTT (HEO)19-AAGAGTACTnUTIATCAGCTnTnT PO4-GAGACTACTGAACACTGAAGGAG-FAM Oligonucleotide ligation assay kinetics study For the study of ligation reaction kinetics, probe concentrations were 5 nM, and oligonucleotide target concentration was 0.5 nM. Login to comment
157 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 7526344:157:185
status: NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 7526344:157:192
status: NEW
view ABCC7 p.Arg553* details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 7526344:157:163
status: NEW
view ABCC7 p.Gly542* details
ABCC7 p.Ser549Asn
X
ABCC7 p.Ser549Asn 7526344:157:170
status: NEW
view ABCC7 p.Ser549Asn details
ABCC7 p.Arg560Thr
X
ABCC7 p.Arg560Thr 7526344:157:199
status: NEW
view ABCC7 p.Arg560Thr details
Variations in OLA product yield seen in Figure 4 can more likely be attributed to the high degree of overlap of the probes used in the exon 11 mutational hotspot (G542X, S549N, S549R2, G551D, R553X, R560T). Login to comment