ABCMdb

PMID: 1281032

Super M
Milestones in cystic fibrosis.
Br Med Bull. 1992 Oct;48(4):717-37., [PubMed]

Sentences

No. Mutations Sentence Comment

135 ABCC7 p.Gly551Asp Among the relatively less frequent mutations there are some very interesting ethnic variations: one of the earlier exon 11 mutations to be described G551D,63 is found particularly in peoples of celtic origin. Login to comment 137 ABCC7 p.Gly551Asp Figure 7 shows results of a number of samples analysed for G551D using polymerase chain reaction, a technique which has allowed analysis to take less than one day which is extremely valuable when there is clinical urgency. Login to comment 138 ABCC7 p.Gly551Asp Figure 5 shows one heterozygote for G551D and one homozygote (born to consanguineous Irish tinker parents). Login to comment 148 ABCC7 p.Gly551Asp FIBROSIS Fig. 7 Polaroid photograph of G551D analysis after polymerase chain reaction, using the restriction enzyme EMB01. Login to comment 157 ABCC7 p.Arg117His Only in the case of the mutation R117H is there evidence for this. Login to comment 159 ABCC7 p.Gly542* Homozygotes for G542X have mild disease.67 It is postulated that alternate routes of chloride transport may open up when CFTR does not function at all. Login to comment 160 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Trp1282* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Val520Phe ABCC7 p.Gly85Glu ABCC7 p.Arg75Gln ABCC7 p.Glu60* Thus a protein conformational change in CFTR resulting in a signif- FIBROSIS Table 4 CF Mutations encountered in United Kingdom Mutation Delta F508 G551D R553 G542X R56OT N1303K DI507 R117H 621+1G-T G85E W1282X E60X R75Q V520F 1717-1 G-A CF chromosomes screened 1 Mutations encountered 1062 199 (non Delta F508) 199 199 199 199 199 199 199 199 199 30 15 199 199 CF chromosomes with mutation in North-West England 863 37 8 11 6 6 4 5 10 4 2 2 1 3 3 Percentage 81.2 3.48 0 75 1.03 0.58 0 58 038 0.47 0.98 0.38 0 19 ? Login to comment 164 ABCC7 p.Ala455Glu ABCC7 p.Arg347Pro ABCC7 p.Gln493* ABCC7 p.Ser549Asn ABCC7 p.Arg1283Met ABCC7 p.Gln1291His ABCC7 p.Cys524* ABCC7 p.Gly458Val Mutations encountered elsewhere in UK but not yet m N-W 1154insTC R347P A455E G458V Q493X C524X S549N R1283M Q1291H 199 (in the north-west group) 199 199 0 0 0 199 199 0 icant alteration in function appears to be worse than no CFTR being formed at all. Login to comment 166 ABCC7 p.Arg553Gln Interestingly the mutation R553Q, associated with Delta F508 downstream resulted in an apparently milder phenotype than usual (Tummler, personal communication). Login to comment 171 ABCC7 p.Gly551Asp ABCC7 p.Gly542* The upper track shows 621+1 G->T, the next G551D, then G542X and the lowest track shows Delta F5O8. Login to comment 172 ABCC7 p.Gly551Asp ABCC7 p.Gly542* Two contiguous tracks belong to each specimen tested, for the absence and presence of the allele Thus the patterns shown are: negative, negative, heterozygous for Delta F508, homozygous for Delta F508, compound heterozygote for 621+1 and Delta F5O8, heterozygous for G551D, and compound heterozygote for G542X and Delta F508, then the size ladder ARMS is a registerd trademark of ICI Diagnostics Table 5 Applications of earner testing to families with a known history of CF. Login to comment 174 ABCC7 p.Gly551Asp Homozygosity for Delta F508 comprises by far the largest proportion of meconium ileus but that proportion is similar to those who present without it Certain nega- FIBROSIS tive correlations with meconium ileus have been claimed, eg among heterozygotes of Delta F508 and G551D. Login to comment 175 ABCC7 p.Gly542* A positive correlation of the rare mutation G542X/Delta F508 is awaiting confirmation, but our own figure of 5 out of 7 with meconium ileus seems likely to be confirmed. Login to comment