ABCMdb

PMID: 11379874

Le Marechal C, Audrezet MP, Quere I, Raguenes O, Langonne S, Ferec C
Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (D-HPLC): major implications for genetic counselling.
Hum Genet. 2001 Apr;108(4):290-8., [PubMed]

Sentences

No. Mutations Sentence Comment

72 ABCC7 p.Gly85Glu ABCC7 p.Glu60* Two positive samples, with mutations localised in the two different domains, were selected (E60X and G85E). Login to comment 74 ABCC7 p.Gly85Glu At 57°C, only the low melting domain represented by the mutation G85E in this example is analysed. Login to comment 75 ABCC7 p.Glu60* At 58°C, only the 5` part of the sequence (highlighted; mutation E60X) is correctly analysed (Fig.1B). Login to comment 87 ABCC7 p.Gly85Glu ABCC7 p.Glu60* At 57°C, the 3` part is studied (low melting) represented by mutation G85E (green), whereas at 58°C, the 5` part with mutation E60X (pink) is analysed gene. Login to comment 114 ABCC7 p.Ala96Glu ABCC7 p.His484Arg ABCC7 p.Glu403Asp ABCC7 p.Val322Met ABCC7 p.Gly241Arg ABCC7 p.Ala209Ser ABCC7 p.Arg334Gln ABCC7 p.Leu206Phe ABCC7 p.Arg170Cys At 56°C, the profiles of ∆F508 and M470V are identical 295 Table 2 Novel nucleotide changes identified in the CFTR gene and detected by D-HPLC Exon/ intron Mutant name Nucleic acid change Amino acid change Effect on amino acid sequence Patient 1 185+1 G to T G to T at 185+1 Splicing CF patient 2 186 - 13 C to G C to G at 186-13 Silent CF patient 2 211 Del G Deletion of G at 211 Frameshift CF patient 2 237 Ins A Insertion A at 237 Frameshift CF patient 2 296+2 T to C 296+2 T to C Splicing CF patient 3 W 57 X2 G to A at 303 Trp to Stop at 57 (TGG to TGA) Nonsense CF patient 3 306 InsA Insertion of A at 306 Frameshift CF patient 3 306 Ins C Insertion of C at 306 Frameshift CF patient 3 W 79 X G to A at 368 Trp to Stop at 79 (TGG to TAG) Nonsense CF patient 4 A 96 E C to A at 419 Ala to Glu at 96 (GCA to GAA) Missense CF patient 4 L 127 X T to G at 512 Nonsense CF patient 4 541 Del CTCC Deletion of CTCC at 541 Leu to Stop at 127 (TTA to TGA) Frameshift CF patient 5 L 165 S T to C at 626 Leu to Ser at 165 (TTA to TCA) Missense CF patient 5 R 170 C C to T at 640 Arg to Cys at 170 (CGT to TGT) Missense Control 6a L 206 F G to T at 750 Leu to Phe at 206 (TTG to TTT) Missense CF patient 6a A 209 S G to T at 757 Ala to Ser at 209 (GCA toTCA) Missense CF patient 6a A 209 A A to G at 759 Ala to Ala at 209 (GCA to GCG) Silent CF patient 6a C 225 X T to A at 807 Cys to Stop at 225 (TGT to TGA) Nonsense CF patient 6a G 241 R G to A at 852 Gly to Arg at 241 (GGG to AGG) Missense CF patient 6b 905 Del G Deletion of Gat 905 Frameshift CF patient 7 A 309 A C to G at 1059 Ala to Ala at 309 (GCC to GCG) Silent Control 7 V 322 M G to A at 1096 Val to Met at 322 (GTG to ATG) Silent CF patient 7 R 334 Q G to A at 1133 Arg to Gln at 334 (CGG toCAG) Missense Control 7 Q 353 H A to C at 1191 Gln to His at 353 (CAA to CAC) Missense CF patient 7 1248+1 G to C G to C at 1248+1 Splicing CF patient 8 L 383 L G to A at 1281 Leu to Leu at 383 (TTG to TTA) Silent Control 8 W 401 X G to A at 1334 Trp to Stop at 401 (TGG to TAG) Nonsense CF patient 8 E 403 D G to C at 1341 Glu to Asp at 403 (GAG to CAG) Missense CF patient 9 1367 Del C Frameshift CF patient 10 1525 - 2 A to G Deletion of C at 1367 Splicing CF patient 10 G 480 G T to C at 1572 Gly to Gly at 480 (GGT to GGC) Silent CF patient 10 1576 Ins T Insertion of T at 1576 Frameshift CF patient 10 H 484 R A to G at 1583 His to Arg at 484 (CAC to CGC) Missense Neonatal hypertrypsinaemia 10 I506 V A to G at 1648 Ileto Val at 506 (ATC to GTC) Silent Control 11 1717 - 19 T to C T to C at 1717-19 Splicing ? Login to comment 115 ABCC7 p.Cys866Tyr ABCC7 p.Cys866Tyr ABCC7 p.Phe932Ser ABCC7 p.Phe932Ser ABCC7 p.Ser895Thr ABCC7 p.Ser895Thr Neonatal hypertrypsinaemia 11 G 544 G T to G at 1764 Gly to Gly at 544 (GGT to GGG) Silent Control 11 1802 Del C Deletion of C at 1802 Frameshift CF patient 12 Y 569 X T to A at 1839 Tyr to Stop at 569 (TAT to TAA) Nonsense CF patient 12 1898+5 G to A G to A at 1898+5 Splicing CF patient 13 2335 Del A Deletion of A at 2335 Frameshift CF patient 14a E 831 X G to T at 2623 Glu to Stop at 831 (GAG to TAG) Nonsense CF patient 14a C 866 Y G to A at 2729 Cys to Tyr at 866 (TGC to TAC) Missense CF patient 14a V 868 V G to A at 2736 Val to Val at 868 (GTA to GTG) Silent CF patient 14b 2752 - 1 G to T G to T at 2752-1 Splicing CF patient 14b 2752 - 97 C to T C to T at 2752-97 Silent Control 14b W 882 X G to A at 2777 Trp to Stop at 882 (TGG to TAG) Nonsense CF patient 15 S 895 T G to C at 2816 Ser to Thr at 895 (AGT to ACT) Missense Control 15 F 932 S T to C at 2927 Phe to Ser at 932 (TTC to TCC) Missense Control 15 3040+23 T to C T to C at 3040 +23 Silent Control who have compared the sensitivity of fluorescent-SSCP (F/SSCP) and D-HPLC from a collection of 67 different mutations from different genes (ABCC7, MIM 602421, VHL, MIM 193300; Gross et al. 1999). Login to comment 133 ABCC7 p.Val1293Ile ABCC7 p.Val1293Ile ABCC7 p.Ser977Phe ABCC7 p.Ile1366Thr ABCC7 p.Met1140Lys ABCC7 p.Asn1303Ile ABCC7 p.Arg1066Ser ABCC7 p.Phe1257Leu ABCC7 p.Ser1159Phe ABCC7 p.Arg1358Ser ABCC7 p.Ser1161Arg 296 Table 2 (continued) Exon/ intron Mutant name Nucleic acid change Amino acid change Effect on amino acid sequence Patient 16 S 977 F C to Tat 3062 Ser to Phe at 977 (TCC to TTC) Missense CF patient 17a G 1003 X G to T at 3139 Gly to Stop at 1003 (GGA to TGA) Nonsense CF patient 17a Q 1042 X C to T at 3256 Gln to Stop at 1042 (CAA to TAA) Nonsense CF patient 17b L 1059 L A to G at 3309 Leu to Leu at 1059 (TTA to TTG) Silent Control 17b R 1066 S C to A at 3328 Arg to Ser at 1066 (CGT to AGT) Missense CF patient 17b T 1115 T C to A at 3477 Thr to Thr at 1115 (ACC to ACA) Silent Control 17b 3499+6 A to G A to G at 3499 Splicing CF patient 17b 3499+7 T to G T to G at 3499+7 Splicing Control 18 Delta M 1140 Deletion of 3 pb Frameshift CF patient 18 M 1140 K T to A at 3551 Met to Lys at 1140 (ATG to AAG) Missense Bronchiectasis 19 S 1159 F C to T at 3608 Ser to Phe at 1159 (TCT to TTT) Missense CF patient 19 S 1161 R C to G at 3615 Ser to Arg at 1161 (AGC to AGG) Missense CF patient 19 S 1206 X C to G at 3749 Ser to Stop at 1206 (TCA to TGA) Nonsense CF patient 20 F 1257 L T to G at 3903 Phe to Leu at 1257 (TTT to TTG) Missense CF patient 20 4005+33 A to G A to G at 4005 +33 Splicing Bronchiectasis 21 V1293I G to A at 4009 Val to Ile at 1293 Missense Control 21 4015 Del A Deletion of A at 4015 Frameshift CF patient 21 N 1303 I A to T at 4040 Asn to Ile at 1303 (AAC to ATC) Missense CF patient 21 P 1306 P C to T at 4050 Pro to Pro at 1306 (CCC to CCT) Silent CF patient 21 E 1308 X G to T at 4064 Glu to Stop at 1308 (GAA to TAA) Nonsense CF patient 22 4172 Del GC Deletion of GC at 4172 Frameshift CF patient 22 R 1358 S A to T at 4206 Arg to Ser at 1358 (AGA to AGT) Missense Control 22 I 1366 T T to C at 4229 Ile to Thr at 1366 (ATC to ACC) Missense Control 23 4374+10 T to C T to C at 4374+ 10 Splicing CF patient 24 D 1477 D T to C at 4563 Asp to Asp at 1477 (GAT to GAC) Silent Control This new tool thus greatly improves genetic counselling. Login to comment 140 ABCC7 p.Gly551Asp ABCC7 p.Trp1282* ABCC7 p.Gly542* For example, if only the ∆F508 and the other most common mutations (G551D, G542X, W1282X, 1717-1 G→A) are sought, the detection rate is 70% and the residual risk is around 1/3. Login to comment