Microelectronic DNA assay for the detection of BRCA1 gene mutations

Biomed Microdevices. 2004 Mar;6(1):55-60. doi: 10.1023/b:bmmd.0000013366.85609.dd.

Abstract

Mutations in BRCA1 are characterized by predisposition to breast cancer, ovarian cancer and prostate cancer as well as colon cancer. Prognosis for this cancer survival depends upon the stage at which cancer is diagnosed. Reliable and rapid mutation detection is crucial for the early diagnosis and treatment. We developed an electronic assay for the detection of a representative single nucleotide polymorphism (SNP), deletion and insertion in BRCA1 gene by the microelectronics microarray instrumentation. The assay is rapid, and it takes 30 minutes for the immobilization of target DNA samples, hybridization, washing and readout. The assay is multiplexing since it is carried out at the same temperature and buffer conditions for each step. The assay is also highly specific, as the signal-to-noise ratio is much larger than recommended value (72.86 to 321.05 vs. 5) for homozygotes genotyping, and signal ratio close to the perfect value 1 for heterozygotes genotyping (1.04).

Publication types

  • Comparative Study
  • Evaluation Study
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.
  • Validation Study

MeSH terms

  • Adult
  • BRCA1 Protein / genetics*
  • Biomarkers, Tumor / genetics*
  • Breast Neoplasms / diagnosis
  • Breast Neoplasms / genetics
  • Breast Neoplasms / metabolism*
  • DNA Mutational Analysis / instrumentation*
  • DNA Mutational Analysis / methods
  • Electronics, Medical
  • Equipment Design
  • Equipment Failure Analysis*
  • Female
  • Gene Expression Profiling / instrumentation*
  • Gene Expression Profiling / methods
  • Humans
  • Middle Aged
  • Miniaturization / methods
  • Oligonucleotide Array Sequence Analysis / instrumentation*
  • Oligonucleotide Array Sequence Analysis / methods
  • Reproducibility of Results
  • Sensitivity and Specificity

Substances

  • BRCA1 Protein
  • Biomarkers, Tumor