ABCMdb

PMID: 11702214

Fumagalli A, Ferrari M, Soriani N, Gessi A, Foglieni B, Martina E, Manitto MP, Brancato R, Dean M, Allikmets R, Cremonesi L
Mutational scanning of the ABCR gene with double-gradient denaturing-gradient gel electrophoresis (DG-DGGE) in Italian Stargardt disease patients.
Hum Genet. 2001 Sep;109(3):326-38., [PubMed]

Sentences

No. Mutations Sentence Comment

37 ABCA4 p.Gly1961Glu ABCA4 p.Asp2177Asn ABCA4 p.Ala1038Val ABCA4 p.Gly863Ala ABCA4 p.Thr1019Met ABCA4 p.Leu1970Phe ABCA4 p.Arg2139Trp ABCA4 p.Val2050Leu ABCA4 p.Glu2131Lys ABCA4 p.Leu2027Phe ABCA4 p.Asn1868Ile ABCA4 p.Pro1380Leu ABCA4 p.His1838Tyr ABCA4 p.Arg572Gln ABCA4 p.Tyr639* ABCA4 p.His1406Tyr DNA samples (n=22) carrying previously identified mutations in the ABCR gene were employed as controls for evaluating the efficacy of the DG-DGGE approach in detecting sequence variations R572Q (Lewis et al. 1999), Y639X (Lewis et al. 1999), G863A (Lewis et al. 1999; Maugeri et al. 1999), A1038V (Rozet et al. 1998), T1019M (Rozet et al. 1998), 3211insGT (Lewis et al. 1999), P1380L (Lewis et al. 1999), H1406Y (Lewis et al. 1999), 4947delC (Lewis et al. 1999), H1838Y (Lewis et al. 1999), 5714+5G→A (Cremers et al. 1998), N1868I (De La Paz et al. 1999), L1938L (Rivera et al. 2000), G1961E (Allikmets et al. 1997a, 1997b), L1970F (Lewis et al. 1999), L2027F (Nasonkin et al. 1998), V2050L (Lewis et al. 1999), E2131K (Lewis et al. 1999), R2139W (Lewis et al. 1999), 6709insG (Lewis et al. 1999), D2177N (Allikmets et al. 1997a, 1997b), 2181del12 (Lewis et al. 1999). Login to comment 65 ABCA4 p.Trp700* None was found in 50 healthy control individuals, except for W700X, which was detected in one control (1/100 alleles). Login to comment 66 ABCA4 p.Trp700* Altogether, we identified four amino-acid-changing alterations (W700X Table 1 (continued) Exon Primers Fragment length (bp) Annealing T° (°C) Porosity gradient (%) Denaturing gradient (%) 42 5`-(GC3)CTCCTAAACCATCCTTTGC-3` 270 55a 8.5-15 30-100 5`-AGGCAGGCACAAGAGCTGAT-3` 43 5`-CTTACCCTGGGGCCTGACA-3` 338 55a 6.5-15 30-80 5`-(GC3)TCTGTACAGATCTTTCAGGGC-3` 44 5`-(GC1)GAAGCTTCTCCAGCCCTAGC-3` 324 56 6.5-12 10-70 5`-TGCACTCTCATGAAACAGGC-3` 45 5`-GTTTGGGGTGTTTGCTTGTC-3` 296 53a 8.5-15 30-80 5`-(GC1)ACCTATTTCCCCAACCCAAG-3` 46 5`-(GC1)GAAGCAGTAATCAGAAGGGC-3` 297 54 6.5-12 30-80 5`-GCCTCACATTCTTCCATGCTG-3` 47 5`-(GC1)TCACATCCCACAGGCAAGAG-3` 298 56 6.5-12 30-90 5`-TTCCAAGTGTCAATGGAGAAC-3` 48 5`-(GC3)CCAACCACTAACAGAGGCCT-3` 409 56a, b 8.5-15 30-100 5`-ACACTGGGTGTTCTGGACCA-3` 49 5`-(GC1)GTGTAGGGTGGTGTTTTCC-3` 261 52 8.5-15 30-90 5`-AAGCCCAGTGAACCAGCTGG-3` a PCR performed according to a touch-down protocol b PCR performed in the presence of 10% DMSO Fig.1A-C Ophthalmoscopic findings. Login to comment 70 ABCA4 p.Leu541Pro ABCA4 p.Cys1490Tyr ABCA4 p.Arg1098Cys ABCA4 p.Ala1598Asp ABCA4 p.Arg2149Leu ABCA4 p.Tyr639* Mutated samples are: L541P (1622T→C) for exon 12; Y639X (1917C→A) for exon 13; R1098C (3292C→T) for exon 22; C1490Y (4469G→A) for exon 30; A1598D (4793C→A) for exon 34; R2149L (6446G→T) for exon 47 Table 2 Mutations detected in STGD patients and non-affected controls (Cases independent genomes analyzed). Login to comment