Automated mutation screening using dideoxy fingerprinting and capillary array electrophoresis

Human Mutation

Volumn 18, Issue 5, 2001, Pages 451-457

  Larsen, Lars Allan ^a,c   Johnson, Martin ^b   Brown, Candia ^b   Christiansen, Michael ^a   Frank Hansen, Rune ^a   Vuust, Jens ^a   Andersen, Paal Skytt ^a  

^a STATENS SERUM INSTITUT   (Denmark)

^b APPLIED BIOSYSTEMS   (United States)

^c UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

Automated dideoxy fingerprinting; CAE; Capillary array electrophoresis; DdF; Genetic screening; Ion channel; KCNQ1 KCNH2; Long QT syndrome; Mutation detection

Indexed keywords

ARTICLE; AUTOMATION; CAPILLARY ELECTROPHORESIS; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; DNA FINGERPRINTING; GENE MUTATION; GENETIC ANALYSIS; HUMAN; LONG QT SYNDROME; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL;

AUTOMATION; CATION TRANSPORT PROTEINS; DIDEOXYNUCLEOSIDES; DNA FINGERPRINTING; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; ELECTROPHORESIS, CAPILLARY; ETHER-A-GO-GO POTASSIUM CHANNELS; EXONS; GENETIC SCREENING; HUMANS; INJECTIONS; INTRONS; KCNQ POTASSIUM CHANNELS; KCNQ1 POTASSIUM CHANNEL; LONG QT SYNDROME; MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; POTASSIUM CHANNELS; POTASSIUM CHANNELS, VOLTAGE-GATED; REPRODUCIBILITY OF RESULTS; SENSITIVITY AND SPECIFICITY; TEMPERATURE; TRANS-ACTIVATORS;

EID: 0035163727     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.1216     Document Type: Article

References (20)

1. A comparison of fluorescent SSCP and denaturing HPLC for high throughput mutation scanning
2. Capillary electrophoresis of DNA potential utility for clinical diagnoses
3. Bi-directional dideoxy fingerprinting (Bi-ddF): Rapid and efficient screening for mutations in the Big Blue transgenic mouse mutation detection system
4. Detection of heterozygous mutations in BRCA1 using high density oligonucleotide arrays and two-colour fluorescence analysis
5. A streamlined mutation detection system: Multicolor post-PCR fluorescence labeling and single-strand conformational polymorphism analysis by capillary electrophoresis
6. Neighboring-nucleotide effects on the rates of germ-line single-base-pair substitution in human genes
7. Human gene mutation database-a biomedical information and research resource
8. Dideoxy fingerprinting assay for BRCA1 mutation analysis
9. A single strand conformation polymorphism/heteroduplex (SSCP/HD) method for de tection of mutations in 15 exons of the KVLQT1 gene, associated with long QT syndrome
10. High-throughput single-strand conformation polymorphism analysis by automated capillary electrophoresis: Robust multiplex analysis and pattern-based identification of allelic variants
11. High throughput mutation screening by automated capillary electrophoresis
12. Screening for mutations and polymorphisms in the genes KCNH2 and KCNE2 encoding the cardiac HERG/MiRP1 ion channel: Implications for acquired and congenital long QT syndrome
13. Parameters affecting the sensitivities of dideoxy fingerprinting and SSCP
14. Dideoxy fingerprinting for rapid screening of rpoB gene mutations in clinical isolates of Mycobacterium tuberculosis
15. High-throughput single-strand conformation polymorphism analysis by capillary electrophoresis
16. Dideoxy fingerprinting (ddE): A rapid and efficient screen for the presence of mutations
17. Detection of numerous Y chromosome biallelic polymorphisms by denaturing high-performance liquid chromatography
18. Long QT syndromes and torsade de pointes
19. Denaturing high-performance liquid chromatography: A review