ABCMdb

PMID: 7521710

Ravnik-Glavac M, Glavac D, Dean M
Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene.
Hum Mol Genet. 1994 May;3(5):801-7., [PubMed]

Sentences

No. Mutations Sentence Comment

36 ABCC7 p.Trp57Gly Mutations such as 300delA and W57G, which have nearly identical SSCP patterns can be distinguished by their heteroduplexes (Fig. lc and d). Login to comment 46 ABCC7 p.Gly551Asp ABCC7 p.Arg553* ABCC7 p.Arg553Gln ABCC7 p.Ile1234Val ABCC7 p.Gln1291Arg ABCC7 p.Glu827* cd,e,f.gformatjon of heteroduplexes in DNA samples containing the following mutations increases the sensitivity to 100%: 1833delT; E827X; Q1291R; G551D, R553X, R553Q; I1234V, 3850-3T-G; respectively. Login to comment 48 ABCC7 p.Arg347Pro ABCC7 p.Arg352Gln As seen in Fig. 3a, on an MDE/sucrose gel of eight exon 7 mutations, DNAs containing two different mutations (R347P and R352Q) produced SSCPs almost identical to the wild type DNA. Login to comment 53 ABCC7 p.Trp1282* All studied DNA samples had a mutation on one CF allele except for the DNA sample with W1282X, which is from a homozygous CF patient. Login to comment 59 ABCC7 p.Gln220* ABCC7 p.Ser1255* SSCP analysis of different CFTR gene regions on an MDE gel: (a) among exon 6a mutations, Q220X was hardly resolvable from the wild type; (b) all exon 17b mutations were distinguished on MDE gel; and (c) S1255X mutation of exon 20 is not resolvable from wild type. Login to comment 67 ABCC7 p.Gly551Asp ABCC7 p.Arg560Thr On the other hand, it was hard to distinguish among mutations G551D (G-A at 1784) R560T t t t t t t t t ait- < •- " •- < t t t i » t t at •a Si t- £ 5 a Figure 5. Login to comment 69 ABCC7 p.Leu719* ABCC7 p.Arg560Lys ABCC7 p.Glu827* (G-A at 1807), R560K (G-A at 1811) and mutations L719X (T-A), 2522insC, 2556insAT, E827X on exons 11 and 13, respectively, for all except one analysis condition (see Table 1). Login to comment 77 ABCC7 p.Arg347Pro ABCC7 p.Arg352Gln ABCC7 p.Leu327Arg Mutations L327R, R347P and R352Q were better distinguished from wild type on gel with higher acrylamide concentration. Login to comment 97 ABCC7 p.Gln1291Arg ABCC7 p.Glu827* Mutations resolved due to specific heteroduplex bands on MDE/glycerol gels were for example: 1833delT, E827X and Q1291R. Login to comment 120 ABCC7 p.Arg74Trp ABCC7 p.Ile148Thr ABCC7 p.Leu206Trp ABCC7 p.Gly85Glu ABCC7 p.Arg75Gln ABCC7 p.Ala120Thr ABCC7 p.Gln220* ABCC7 p.His199Tyr ABCC7 p.Gln39* ABCC7 p.Gln30* ABCC7 p.Glu92Lys ABCC7 p.Glu60* ABCC7 p.Gln151* ABCC7 p.Glu92* ABCC7 p.Trp57Gly ABCC7 p.Trp57* ABCC7 p.Leu88* ABCC7 p.Gly27* ABCC7 p.His199Gln ABCC7 p.Arg31Leu ABCC7 p.Leu88Ser Exon 1: S4X (24), 186-13C-G (F£rec et al., pers. comm.); Exon 2: G27X (Shacldeton and Harris, pers. comm.), Q30X (Chilldn aal., pers. comm.), R31L (Zielenski et al., pers. comm.), Q39X (25); Exon 3: 300delA (Malone et al., pers. comm.), W57G (Ferrari et al., pers. comm.), W57X (26), E60X (Malone et al., pers. comm.), R74W (Claustres et al., pers. comm.), R75Q (27), G85E (28), 394delTT (Claustres et al., pers. comm.), L88X (Maceketal., pers. comm.), L88S (Malone et al., pers. comm.), 405 + 1G-A (Dork and Tummler, pers. comm.); Exon 4: E92K (Chillon et al., pers. comm.), E92X (D6rk a al., pers. comm.), P99L (Schwartz and Holmberg, pers. comm.), 441delA (Zielenski et al., pers. comm.), 444delA (29), 457TAT-C- (F£rec et al., pers. comm., (21), Dl 10H (14), Rl 17C (D6rk et al., pers. comm.), Rl 17H (14), A120T (Chillon et al., pers. comm.), 541delC (30), 556delA (28), I148T (Rininsland et al., pers. comm.), Q151X (Shacldeton et al., pers. comm.), 621 + 1C-T (28), 622-2A-C (31); Exon5:G178R (28), 681delC (Zielenski a al., pers. comm.), 711 + 1G-T (28); Exon 6a: H199Y (Dork and Tummler, pers. comm.), H199Q (Dean etal., pers. comm.), L206W (Claustres et al., pers. comm.), Q220X (Shacldeton and Harris, pers. comm., Schwartz and Holmberg, pers. comm.), 852del22 (32); Exon 6b: 977insA (33); Exon7:F311L(34). Login to comment 121 ABCC7 p.Gly551Asp ABCC7 p.Pro574His ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro ABCC7 p.Trp1316* ABCC7 p.Arg347Leu ABCC7 p.Gly542* ABCC7 p.Arg352Gln ABCC7 p.Glu831* ABCC7 p.Gln493* ABCC7 p.Ser549Asn ABCC7 p.Arg560Thr ABCC7 p.Met1101Lys ABCC7 p.Arg1070Gln ABCC7 p.Ser1235Arg ABCC7 p.Glu1371* ABCC7 p.Asn1303His ABCC7 p.Tyr1092* ABCC7 p.Ile1005Arg ABCC7 p.Ser1255* ABCC7 p.Ser977Pro ABCC7 p.Asp1152His ABCC7 p.Trp401* ABCC7 p.Gly970Arg ABCC7 p.Arg553Gln ABCC7 p.His1085Arg ABCC7 p.Arg1066Leu ABCC7 p.Ile1234Val ABCC7 p.Tyr563Asn ABCC7 p.Leu1077Pro ABCC7 p.Leu327Arg ABCC7 p.Arg1066His ABCC7 p.Arg851* ABCC7 p.Trp1098Arg ABCC7 p.Leu719* ABCC7 p.Arg560Lys ABCC7 p.Ser492Phe ABCC7 p.Ala349Val ABCC7 p.Ala1067Thr ABCC7 p.Gln1291Arg ABCC7 p.Cys866Tyr ABCC7 p.Gln1238* ABCC7 p.Ala559Thr ABCC7 p.Glu827* ABCC7 p.Lys716* ABCC7 p.His1054Asp ABCC7 p.Gly1061Arg ABCC7 p.Gln685* ABCC7 p.Gly458Val ABCC7 p.Glu1104* ABCC7 p.Asp36Lys 1078delT (35), L327R (Ravnik-Glavac a al., unpublished), R334W (36), D36K (31), R347L (26), R347P (14), A349V (26), R352Q (30), 1221delCT (34); Exon 8: W401X (31), 1342-1G-C (25); Exon 9: G458V (37), 1525 -1G-A (38); Exon 10: S492F (34), Q493X (39), 1609delCA (40,17), deltaI507 (39,41), deltaF5O8 (3), 1717-1G-A (39,42); Exon 11: G542X (39), S549N, G551D, R553X (43), R553Q (44), A559T (43), R560K (Fine et al., pers. comm.), R560T (39); Exon 12: Y563N (39), 1833delT (Schwartz et al., pers. comm.), P574H (39), 1898 + 1G-C (31), 1898+3A-G (Ferrari et al., pers. comm.); Exon 13: G628R(G-C) (31), Q685X (Firec et al., pers. comm.), K716X (26), L719X (Dork etal., pers. comm.), 2522insC (15), 2556insAT (45), E827X (34); Exon 14a: E831X (Ffrec et al., pers. comm.), R851X (29), 2721delll (31), C866Y (Audrezet et al., pers. comm.); Exon 14b: 2789+5G-A (Highsmith et al., pers. comm.); Exon 15: 2907denT (21), 2991del32 (Dark and TQmmler, pers. comm.), G970R (31); Exon 16: S977P, 3100insA (D6rk et al., pers. comm.); Exon 17a: I1005R (Dork and TQmmler, pers. comm.), 3272-1G-A (46); Exon 17b: H1054D (F6rec et al., pers. comm.), G1061R (Fdrec et al., pers. comm.), 332Oins5, R1066H, A1067T (34), R1066L (Fe"rec etal., pers. comm.), R1070Q (46), E1104X (Zielenski el al., pers. comm.), 3359delCT (46), L1077P (Bozon « a/., pers. comm.), H1085R (46), Y1092X (Bozon etal., pers. comm.), W1098R, M1101K (Zielenski et al., pers. comm.); Exon 18: D1152H (Highsmith et al., pers. comm.); Exon 19:R1162X (36), 3659delC (39), 3662delA (25), 3667del4 (Chillon et al., pers. comm.), 3737ddA (35), 3821ddT (15), I1234V (35), S1235R (31), Q1238X (26), 3849G-A (25), 385O-3T-G (38); Exon20:3860ins31 (Chillon etal., pers. comm.), S1255X (47), 3898insC (26), 3905insT (Malik et al., pers. comm.), D127ON (48), W1282X (49), Q1291R (Dork et al., pers. comm.), Exon 21: N1303H (35), N13O3K (50), W1316X (43); Exon 22: 11328L/4116delA (Dork and TQmmler, pers. comm.), E1371X (25); Exon 23: 4374+ 1G-T (38); Exon 24: 4382delA (Claustres et al., pers. comm.). 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