ABCMdb

PMID: 7684943

Costes B, Girodon E, Ghanem N, Chassignol M, Thuong NT, Dupret D, Goossens M
Psoralen-modified oligonucleotide primers improve detection of mutations by denaturing gradient gel electrophoresis and provide an alternative to GC-clamping.
Hum Mol Genet. 1993 Apr;2(4):393-7., [PubMed]

Sentences

No. Mutations Sentence Comment

32 ABCC7 p.Ile506Val Analysis of the exon 10 nucleotide substitution 1648 A-G(I506V). Login to comment 33 ABCC7 p.Ile506Val ABCC7 p.Ile506Val Lane 1: an I506V heterozygous sample amplified with regular primers; Lane 2: a normal control; Lane 3: the I506V sample amplified with ChemiClamped primers and run without prior UV irradiation; Lanes 4 and 5:1506V sample and a normal control, respectively, amplified with ChemiClamped primers and run after 15 min of UV irradiation. Login to comment 34 ABCC7 p.Arg117His B. Analysis of the exon 4 mutation R117H. Login to comment 35 ABCC7 p.Arg117His Lanes 1, 3 and 4: a R117H heterozygote without a clamp (1), with Chemidamp but not irradiated (3), and with ChemiClamp after UV irradiation(4). Login to comment 44 ABCC7 p.Arg117His ABCC7 p.Ile506Val Two nucleotide substitutions lying in a single melting domain within CFTR exon 10 (1648 A-G named I506V) or exon 4 (482 G-A or R117H) were analysed with or without the chemical clamp at one end of the gene fragment. Login to comment 55 ABCC7 p.Ile506Val DGGE analysis of the I506V polymorphism in exoo 10 of the CFTR gene, using ChemiClamped (left) and GC-clamped (right) primers. Login to comment 62 ABCC7 p.Gly542* DGGE analysis of the CF mutation G542X. Login to comment 64 ABCC7 p.Gly542* Lanes 1 and 3: G542X heterozygote; Lanes 2 and 4: Normal controls, h: heteroduplexes. Login to comment 65 ABCC7 p.Ile506Val the DGGE pattern of ChemiClamped exon 10 fragments from an I506V heterozygote, shows that homoduplexes and heteroduplexes can be distinguished unambiguously. Login to comment 67 ABCC7 p.Gly542* Figure 4 shows, as an example, the results obtained with a G542X (exon 11) heterozygote. Login to comment