Detection of mutations in multi-exon genes: Comparison of conformation sensitive gel electrophoresis and sequencing strategies with respect to cost and time for finding mutations

Human Mutation

Volumn 9, Issue 4, 1997, Pages 339-343

  Ganguly, Arupa ^a   Williams, Charlene ^b  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b NONE

Author keywords

CSGE; multi exon genes; mutations; sequencing

Indexed keywords

ARTICLE; COST EFFECTIVENESS ANALYSIS; EXON; GEL ELECTROPHORESIS; GENE MUTATION; GENE SEQUENCE; HUMAN; JOINT DEGENERATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

COLLAGEN; DNA; DNA MUTATIONAL ANALYSIS; ELECTROPHORESIS, POLYACRYLAMIDE GEL; EXONS; GENES; HUMANS; NUCLEIC ACID CONFORMATION; NUCLEIC ACID HETERODUPLEXES; OSTEOCHONDRODYSPLASIAS; POINT MUTATION;

EID: 0030992602     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)9:4<339::AID-HUMU6>3.0.CO;2-0     Document Type: Article

References (3)

1. Ganguly A, Rock MJ, Prockop DJ (1993) Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: Evidence for solvent-induced bends in DNA heteroduplexes. Proc Natl Acad Sci USA 90:10325-10329.
2. Williams CJ, Harrison DA, Hopkinson I, Baldwin CT, Ahmad NN, Ala-Kokko L, Korn RM, Buxton PG, Dimascio J, Considine EL, Prockop DJ (1992) Detection of sequence variants in the gene for human type II procollagen (COL2A1) by direct sequencing of polymerase chain reaction amplified genomic DNA. Human Mutat 1:403-416.
3. Williams CJ, Rock M, Considene E, McCarron S, Gow P, Ladda R, Mclain D, Michels V, Murphy W, Prockop DJ, Ganguly A (1995) Rapid detection of mutations by conformation sensitive gel electrophoresis. Application to identification of a fourth family with the Arg→Cys substitution and three new mutations in the type II procollagen gene. Hum Mol Genet 4:309-312.