ABCMdb

PMID: 15908456

Sanchez-Garcia JF, Benet J, Gutierrez-Mateo C, Luis Seculi J, Monros E, Navarro J
Multiple mutation analysis of the cystic fibrosis gene in single cells.
Mol Hum Reprod. 2005 Jun;11(6):463-8. Epub 2005 May 20., [PubMed]

Sentences

No. Mutations Sentence Comment

38 ABCC7 p.Arg347Pro ABCC7 p.Asn1303Lys ABCC7 p.Gly542* Cell samples Isolated buccal cells were collected by mouthwashes from three normal individuals, three patients affected by mutations DF508, DF508/1078delT and DF508/3849þ10kbC.T and five heterozygous carriers for CFTR mutations DF508, N1303K, G542X, R347P and 2183AA.G. Login to comment 61 ABCC7 p.Gly551Asp ABCC7 p.Arg553* ABCC7 p.Gly542* ABCC7 p.Gln493* ABCC7 p.Val520Phe ABCC7 p.Arg560Thr ABCC7 p.Ser459Arg ABCC7 p.Ser459Asn The mutations assayed are: DF508, DI507, Q493X, V520F, 1717-1G.A, G542X, G551D, R560T, S459R, S459N and R553X labelled with FAM (blue), 3849þ10kbC.T, 3849 þ 4A . Login to comment 62 ABCC7 p.Arg117His ABCC7 p.Ala455Glu ABCC7 p.Trp1282* ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro ABCC7 p.Arg347His ABCC7 p.Asn1303Lys ABCC7 p.Arg1162* ABCC7 p.Gly85Glu ABCC7 p.Tyr122* G, R1162X, 3659delC, W1282X, 3905insT, N1303K, 1078delT, R347P, R347H and R334W labelled with TET (green) and A455E, 1898þ1G.A, 2183AA.G, 2789þ5G.A, G85E, 621þ1G.T, R117H, Y122X and 711þ1G.T labelled with HEX (yellow). Login to comment 88 ABCC7 p.Gly542* A similar result was seen in heterozygous cells for G542X and 3849þ10kbC.T. Login to comment 89 ABCC7 p.Arg347Pro Heterozygous cells for the R347P mutation successfully amplified both alleles with the proofreading Taq. Login to comment 109 ABCC7 p.Arg347Pro Locus R347P reached a 100% amplification rate, while most of the heterozygous loci displayed efficiencies barely over 90%, suggesting that as PCR primers have to be shared between the two alleles, heterozygous samples seem to have less amplification than homozygotes. Login to comment 115 ABCC7 p.Asn1303Lys The loci with amplification rates below 85% (3849þ10kbC.T, N1303K, 2789þ5G.A and 711þ1G.T) should be studied more in-depth, preferably analysing fresh oocytes. Login to comment 121 ABCC7 p.Arg347Pro ABCC7 p.Gly542* 250 S549 20 25 60 15 75 30 13.3 46.7 40 86.7 R553 20 15 65 20 85 30 6.7 46.7 46.7 93.3 G551 20 15 70 15 85 30 10 46.7 43.3 90 V520 20 5 40 55 95 30 0 13.3 86.7 100 I507 20 5 45 50 95 30 0 26.7 73.3 100 F508 20 10 80 10 90 30 10 50 40 90 dF508 (*) 12 25 66.7 8.3 75 19 10.5 52.6 36.8 89.5 Q493 20 10 75 15 90 30 10 56.7 33.3 90 1717-G1 20 25 60 15 75 30 6.7 46.7 46.7 93.3 G542 20 20 65 15 80 30 10 50 40 90 G542X (*) 2 50 50 0 50 7 14.3 85.7 0 85.7 R560 20 20 50 30 80 30 6.7 43.3 50 93.3 R347 20 5 70 25 95 30 0 16.7 83.3 100 R347P (*) - - - - - 3 0 33.3 66.7 100 3849 þ 4A 20 15 55 30 85 30 3.3 50 46.7 96.7 W1282 20 20 40 40 80 30 13.3 30 56.7 86.7 R334 20 10 75 15 90 30 0 13.3 86.7 100 1078 20 25 60 15 75 30 0 13.3 86.7 100 1078 del T (*) 2 0 100 0 100 - - - - - 3849 þ 10kbC 20 20 65 15 80 30 3.3 56.7 40 96.7 3849 þ 10kbC . Login to comment 122 ABCC7 p.Asn1303Lys T (*) - - - - - 2 50 0 50 50 R1162 20 30 60 10 70 30 13.3 66.7 20 86.7 N1303 20 65 30 5 35 30 16.7 76.7 6.7 83.3 N1303K (*) 4 50 50 0 50 - - - - - 3659 20 40 55 5 60 30 10 70 20 90 3905 20 20 60 20 80 30 10 33.3 56.7 90 A455 20 0 0 100 100 30 0 0 100 100 R117 20 20 40 40 80 30 10 36.7 53.3 90 Y122 20 45 35 20 55 30 6.7 70 23.3 93.3 2183AA 20 75 20 5 25 30 66.7 30 3.3 33.3 2183AA . Login to comment