ABCMdb

PMID: 1372093

Cuppens H, Buyse I, Baens M, Marynen P, Cassiman JJ
Simultaneous screening for 11 mutations in the cystic fibrosis transmembrane conductance regulator gene by multiplex amplification and reverse dot-blot.
Mol Cell Probes. 1992 Feb;6(1):33-9., [PubMed]

Sentences

No. Mutations Sentence Comment

19 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Pro574His ABCC7 p.Arg553* ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro ABCC7 p.Trp1316* ABCC7 p.Gln493* ABCC7 p.Ser549Asn ABCC7 p.Arg560Thr ABCC7 p.Tyr563Asn ABCC7 p.Trp846* ABCC7 p.Asp110His ABCC7 p.Ala559Thr ABCC7 p.Tyr913Cys Frequency of 31 mutations in the CFTR gene in 194 Belgian CF chromosomes The 51255X, W1316X ;5 S549N, G551D, R553X, A559T;6 D110H, R117H, R347P;' Q493X, S5491, S549R(T-+G), R560T, Y563N, P574H ;9 W846X, Y913C;10 2556insAT;" R334W;" S549R(A-+C);'6 444delA, 3821deIT;" 621 +1G-*T18 mutations were not present in this random sample of the Belgian CF population . Login to comment 21 ABCC7 p.Gly551Asp These mutations include the eight which are found in the Belgian cystic fibrosis population (Table 1) as well as the 621+1G-+T,18 G551D and R553X6 mutations which have not yet been detected in our Belgian CF patients but which are fairly frequent in other countries . Login to comment 35 ABCC7 p.Ala455Glu ABCC7 p.Trp1282* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Gly458Val Mutation Number of CF chromosomes with the mutation Reference AF508 138(71-1%) 3 G542X 11 (5 .7%) 9 N1303K 6(3-1%) 15 1717-1G--*A 5 (2.6%) 8, 9 A455E 2 (1 .0%) 9 W1282X 2 (1 .0%) 10 G458V 1 (0.5%) 4 A1507 1 (0.5%) 9 Unidentified 28 (14.4%) cation was carried out on a DNA Thermal Cycler (Perkin Elmer-Cetus Instruments) . Login to comment 63 ABCC7 p.Asn1303Lys ABCC7 p.Gly542* Cystic fibrosis patients homozygous for the AF508, G542X and N1303K mutations were available in our Belgian population. Login to comment 75 ABCC7 p.Asn1303Lys ABCC7 p.Gly542* PCR fragments obtained by multiplex amplification of normal genomic DNA, genomic DNA of a carrier for the A1507 mutation, and genomic DNA of patients homozygous for the AF508, G542X or N1303K mutations were hybridized . Login to comment 82 ABCC7 p.Asn1303Lys ABCC7 p.Gly542* The G542X, N1303K and 1717-1G->A mutations turned out to be the most frequent in non-AF508 CF chromosomes in our population . Login to comment 89 ABCC7 p.Gly551Asp ABCC7 p.Arg553* ABCC7 p.Arg553* Also no signal will be obtained with the wild type oligonucleotide R553X probe for an individual homozygous for the G551D mutation or heterozygous for the G551 D and R553X mutations . Login to comment 90 ABCC7 p.Gly551Asp ABCC7 p.Arg553* The reason for this is that the wild type R553X also covers the region mutated in G551D . Login to comment 91 ABCC7 p.Gly551Asp The G551D mutation will prevent hybridization in this region, since it will contain one mismatch (Fig . Login to comment 97 ABCC7 p.Gly551Asp ABCC7 p.Gly551Asp ABCC7 p.Ala455Glu ABCC7 p.Ala455Glu ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Gly542* ABCC7 p.Gly458Val ABCC7 p.Gly458Val 621 + IG-T A455E G458V A1507 AF508 1717-IG - A G542X G551D R553X WI282X N 1303 K 621+IG- .T A455E G458V A1507 AF508 1717-I G-> A G542X G551D R553X W1282X N1303K Fig. 2. Login to comment 99 ABCC7 p.Asn1303Lys Hybridization of PCR fragments obtained by multiplex amplification of normal genomic DNA (A), genomic DNA of a carrier for the A1507 mutation (B) and genomic DNA of patients homozygous for the AF508 (C), C542X (D), N1303K (E) mutations . Login to comment 100 ABCC7 p.Ala455Glu ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Gly458Val Hybridization of pooled PCR products containing the mutant type alleles, obtained by amplification with mutant oligonucleotide probes, for the 621 +1G-+T, A455E, 1717-1G-+A mutations (F), the G458V, R553X, W1282X mutations (G) and the A1507, C551 D mutations (H) . Login to comment 101 ABCC7 p.Gly551Asp ABCC7 p.Gly551Asp ABCC7 p.Ala455Glu ABCC7 p.Ala455Glu ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Gly458Val ABCC7 p.Gly458Val A E M W Non-radioactive CF reverse dot-blot 37 B F M W C M W D M W G H 621 + IGT A455E G458V A1507 A F508 1717-IGA G542X G551D R553 X W1282X N1303K 621+IG-ߦT A455E G458V L 1507 AF508 1717-IG- A G542 X G551D R553X W1282X N 1303 K A F M W G B M W C H M W D M W E J M W Fig. 3. Login to comment 103 ABCC7 p.Gly542* ABCC7 p.Gly458Val Hybridization of PCR fragments obtained by multiplex amplification of G458V/G542X (A), AF508/AF508 (B), AF508/? Login to comment 105 ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Gly542* denotes a yet unidentified CF mutation) (C), AF508/N1303K (D), AF508/G542X (E), C458V/normal (F), AF508/1717-1G-+A (G), G542X/? Login to comment 106 ABCC7 p.Trp1282* (H) and AF508/W1282X (I) individuals. Login to comment