ABCMdb

PMID: 7511817

Lishanski A, Ostrander EA, Rine J
Mutation detection by mismatch binding protein, MutS, in amplified DNA: application to the cystic fibrosis gene.
Proc Natl Acad Sci U S A. 1994 Mar 29;91(7):2674-8., [PubMed]

Sentences

No. Mutations Sentence Comment

49 ABCC7 p.Arg553* ABCC7 p.Arg553* ABCC7 p.Gly542* ABCC7 p.Gly542* a Mutation Location PCR primers (5' 4 3') AF508 exon 10 (1) CTCAGTTTTCCTGGATTATGCC (2) TGGCATGCTTIGATGACG (1) CTCAG1TTICCTGGATTATGCC (3) CTAACCGATTGMTATGGAGCC (4) CMGTGMTCCTGAGCGTGA (3) CTAACCGATTGAATATGGAGCC (5) GCAGAGTACCTGAAACAGGA (6) CATrCACAGTAGCTrACCCA R553X exon 11 (7) GCCTTTCAAATCAGATTGAGC (9) GACA1TTACAGCAAATGCTTGC (10) CAACTGTGGTTAAAGCAATAGTGT (11) GCACAGATTCTGAGTAACCATMT G551 D exon 11 (7) GCC1TTCAAATTCAGATTGAGC (9) GACA1TUACAGCAAATGCTTGC G542X exon 11 (7) GCCTTTCAAATTCAGATTGAGC (8) TGCTCGTTGACCTCCACTC b Exon 10 490 bp I 340 bp 200 bp 100 bp 100 200 PCR Lesion Mismatches product formed size upon (bp) reannealing of PCR product 100 3 bp deletion CTT + GAA (Phe deletion) bulges 200 340 491 203 C 4 T (Arg m 4 Stop) 425 203 G 4 A (Gly 5544 Asp) 141 G 4 T (Gly 542 4 Stop) 300 C/A + T/G single-base mismatches G/T + A/C single-base mismatches G/A + T/C single-base mismatches 400 AF508 LExon11 100 200 300 400 425 bp L 203 bp 141 bp G542X G51 D R553X FIG. 1. Login to comment 109 ABCC7 p.Arg553* Detection of heterozygosity for R553X point mutation. Login to comment 111 ABCC7 p.Gly551Asp ABCC7 p.Gly542* Similar results were obtained with G542X and G551D, as described in Fig. la (data not shown). Login to comment 133 ABCC7 p.Arg553* The results obtained for the R553X C -- T transition are shown in Fig. 6. Login to comment 136 ABCC7 p.Gly551Asp ABCC7 p.Gly542* Similar results were also obtained forthe G542X and G551D point mutations using 141- and 203-bp PCR products, respectively (data not shown). Login to comment