A robotics‐assisted procedure for large scale cystic fibrosis mutation analysis

Jean M. DeMarchi, C. Sue Richards, Raymond G. Fenwick, Robert Pace, Arthur L. Beaudet

Research output: Contribution to journalArticlepeer-review

48 Scopus citations


We describe a convenient, efficient, semiautomated protocol for assaying large numbers of DNA samples for over 20 mutations causing cystic fibrosis. The protocol uses the following: (1) a programmable robotic workstation to perform rapid pipetting and dot‐blotting operations, (2) an allele‐specific oligonucleotide hybridization in a single water bath without correcting for G + C content of oligonucleotides, and (3) a combinatorial system that allows direct determination of the genotype for more frequent mutations. We have used this system routinely for 16 months for carrier detection and for diagnosis of cystic fibrosis. The method can be readily applied to any combination of allele‐specific oligonucleotide assays whether for multiple alleles at one locus or for a few alleles at multiple loci. © 1994 Wiley‐Liss, Inc.

Original languageEnglish (US)
Pages (from-to)281-290
Number of pages10
JournalHuman mutation
Issue number4
StatePublished - 1994
Externally publishedYes


  • Allele‐specific oligonucleotide
  • Cystic fibrosis
  • DNA diagnosis
  • PCR
  • Robotics

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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