An automated fluorescent single strand conformation polymorphism technique for high throughput mutation screening

Chinese Medical Journal

Volumn 114, Issue 11, 2001, Pages 1147-1150

  Weng, J ^a   Lehto, M ^a   Berglund, A ^a   Groop, L C ^a  

^a SUN YAT SEN UNIVERSITY   (China)

Author keywords

Electrophoresis; Fluorescent label; Genetics; Mutation; Single strand conformation polymorphism

Indexed keywords

FLUORESCENT DYE; GLUCOKINASE; GLYCEROL; HEPATOCYTE NUCLEAR FACTOR 4; NUCLEAR FACTOR I; SUCROSE;

ARTICLE; AUTOMATION; CONTROLLED STUDY; FLUORESCENCE; GEL; GENE AMPLIFICATION; GENE DELETION; GENE INSERTION; GENE MUTATION; GENETIC SCREENING; HUMAN; POLYMERASE CHAIN REACTION; SENSITIVITY AND SPECIFICITY; SINGLE STRAND CONFORMATION POLYMORPHISM; TIME;

BASIC HELIX-LOOP-HELIX LEUCINE ZIPPER TRANSCRIPTION FACTORS; DNA-BINDING PROTEINS; GLUCOKINASE; HEPATOCYTE NUCLEAR FACTOR 1; HEPATOCYTE NUCLEAR FACTOR 1-ALPHA; HEPATOCYTE NUCLEAR FACTOR 1-BETA; HEPATOCYTE NUCLEAR FACTOR 4; HUMANS; MUTATION; NUCLEAR PROTEINS; PHOSPHOPROTEINS; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; TRANSCRIPTION FACTORS;

EID: 0035177561     PISSN: 03666999     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (10)

1. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms
2. Diagnostic single strand conformational polyrmorphism, (SSCP): A simplified non-radioisotopic method as applied to a Tay-Sachs B1 variant
3. The rapid detection of unknown mutations in nucleic acids
4. Multiple fluorescence-based PCR-SSCP analysis using internal fluorescent labeling of PCR products
5. Automated fluorescent screening for mutation by SSCP: Use of universal M13 dye primers for labeling and detection
6. Heterogeneity in type 2 diabetes lessons from maturity-onset diabetes of the young
7. Characterization of MODY3 phenotype: Early-onset diabetes caused by an insulin secretion defect
8. High frequency of mutations in MODY and mitochondrial genes in Scandinavian patients with familial early-onset diabetes
9. How sensitive is PCR-SSCP?
10. Hepatocyte nuclear factor-1α (MODY5) gene mutations in Scandinavian families with early-onset diabetes or kidney disease or both