ABCMdb

PMID: 12630958

Devaney J, Glennon M, Farrell G, Ruttledge M, Smith T, Houghton JA, Maher M
Cystic fibrosis mutation frequencies in an Irish population.
Clin Genet. 2003 Feb;63(2):121-5., [PubMed]

Sentences

No. Mutations Sentence Comment

17 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Arg553* ABCC7 p.Gly542* ABCC7 p.Arg560Thr Eight common mutations were screened using polymerase chain reaction-restriction enzyme analysis (PCR-REA): R117H, 1717±1G > A, DI507, DF508, G542X, G551D, R553X and R560T. Login to comment 18 ABCC7 p.Ala455Glu ABCC7 p.Trp1282* ABCC7 p.Arg347Pro ABCC7 p.Asn1303Lys ABCC7 p.Arg1162* In a selected cohort of 40 patients, six other common ABCC7 mutations were screened for, using PCR-REA: R347P, A455E, R1162X, 384910kbC> T, W1282X and N1303K. Login to comment 26 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Arg553* ABCC7 p.Gly542* ABCC7 p.Arg560Thr PCR-REA An in-house PCR-REA procedure was used to screen for the eight common mutations (R117H, 1717±1G > A, DI507, DF508, G542X, G551D, R553X and R560T). Login to comment 27 ABCC7 p.Ala455Glu ABCC7 p.Trp1282* ABCC7 p.Arg347Pro ABCC7 p.Asn1303Lys ABCC7 p.Arg1162* Samples (n 40) were screened using an in-house optimized protocol to screen for six additional mutations (R347P, A455E, R1162X, 3849 10kbC > T, W1282X and N1303K). Login to comment 65 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Arg553* ABCC7 p.Gly542* ABCC7 p.Arg560Thr Frequency of common CF mutations Mutation Numberof chromosomes Frequency (%) R117H 25 2.70 1717^1G >A 20 2.16 DI507 4 0.43 DF508 658 70.97 G542X 4 0.43 G551D 70 7.55 R553X 2 0.22 R560T 4 0.43 Total 788 85 Frequencypercentages areadjustedtorepresent 85%. Login to comment 67 ABCC7 p.Arg117His ABCC7 p.Val520Phe ABCC7 p.Gly85Glu ABCC7 p.Pro67Leu ABCC7 p.Glu60* Frequency of rarer CF mutations and polymorphisms Mutation Numberof chromosomes Frequency (%) Polymorphism Frequency (%) E60X 1 0.24 IVS6a-8 25.0 P67L 1 0.24 (TG)m 37.5 G85E 1 0.24 IVS8-Tn 23.8 6211G >T 1 0.24 M470V 41.3 IVS8^5T 5 1.21 V520F 2 0.48 18981G >A 2 0.48 R117H 1 ^ DF508 17 ^ Total 80 15 Frequencypercentages areadjustedtorepresent 85%. Login to comment 69 ABCC7 p.Val520Phe GMPD profiles of ABCC7 exon 10: lane 1, DF508 heterozygote; lane 2, DF508/V520F compound heterozygote. Login to comment 71 ABCC7 p.Gly551Asp The G551D mutation (7.6%) was found at a higher frequency than the UK (15) (3.08%) and Northern Ireland (13) (5.1%) and was found to be similar to that reported in a previous Irish study (11) (6.9%). Login to comment 72 ABCC7 p.Arg117His The R117H mutation (2.7%) was found at a higher frequency than the UK (15) (0.46%) and similar to that of Ireland (11) (2.0%) and Northern Ireland (13) (4.1%). Login to comment 74 ABCC7 p.Gly542* The G542X mutation (0.43%) was found at a lower frequency than the UK (15) (1.68%), Ireland (11) (1%) and Northern Ireland (13) (2.2%). Login to comment 76 ABCC7 p.Arg560Thr The R560T mutation (0.43%) was found at a similar frequency to the UK (15) (0.42%) and Ireland (11) (0.8%) and was found at a lower frequency to that of Northern Ireland (13) (2.9%). Login to comment 78 ABCC7 p.Val520Phe ABCC7 p.Gly85Glu ABCC7 p.Pro67Leu ABCC7 p.Glu60* There are no reports of the E60X, P67L, G85E, IVS8-5T, V520F or 1898 1G> A mutations in previously published CF mutation frequency reports for the Republic of Ireland (11, 12). Login to comment 79 ABCC7 p.Val520Phe ABCC7 p.Pro67Leu ABCC7 p.Glu60* The E60X mutation has been reported in Northern Ireland (0.7%), with no V520F or P67L alleles being detected (13). Login to comment 81 ABCC7 p.Val520Phe ABCC7 p.Gly85Glu ABCC7 p.Glu60* In UK reports (15), the incidence of the E60X mutation is reported at 0.16%, G85E at 0.21%, 621 1G> T and V520F at 0.17% and 1898 1G> A at 0.46%. Login to comment 83 ABCC7 p.Val520Phe In this study, the DF508, V520F and 5T alleles were associated with meconium ileus and meconium ileus equivalent. Login to comment 84 ABCC7 p.Val520Phe High sweat chloride tests (<90meq/l) were similarly associated with DF508, V520F and 1898 1G> A. Login to comment 89 ABCC7 p.Arg117His For example, the R117H mutation is found in pancreatic-sufficient CF patients as well as in CBAVD patients and the difference in phenotypic expression has been explained by the polymorphic Tn locus in front of exon9 (21). Login to comment