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

Hum Mutat. 1997;9(4):339-43. doi: 10.1002/(SICI)1098-1004(1997)9:4<339::AID-HUMU6>3.0.CO;2-0.


This report compares the relative advantages and disadvantages of two alternative strategies with respect to cost and time for finding mutations in the COL2A1 gene in patients with degenerative diseases of the joint. The coding region of the COL2A1 gene, 30 kb in length and containing 52 exons, can be analyzed using 26 genomic PCR products. The results indicate that the most efficient and cost effective way to screen large genes is a prescreen of the coding sequences followed by sequencing of a limited number of variant-PCR products.

Publication types

  • Comparative Study

MeSH terms

  • Collagen / genetics*
  • DNA / analysis
  • DNA / chemistry
  • DNA Mutational Analysis / economics*
  • DNA Mutational Analysis / methods
  • Electrophoresis, Polyacrylamide Gel / economics*
  • Electrophoresis, Polyacrylamide Gel / methods
  • Exons / genetics*
  • Genes / genetics
  • Humans
  • Nucleic Acid Conformation
  • Nucleic Acid Heteroduplexes / analysis
  • Osteochondrodysplasias / genetics
  • Point Mutation / genetics*


  • Nucleic Acid Heteroduplexes
  • Collagen
  • DNA