Bioelectronic Sensor Technology for Detection of Cystic Fibrosis and Hereditary Hemochromatosis Mutations

Susan H. Bernacki, Daniel H. Farkas, Wenmei Shi, Vivian Chan, Yenbou Liu, Jeanne C. Beck, Karen Snow Bailey, Victoria M. Pratt, Kristin G. Monaghan, Karla Matteson, Frederick V. Schaefer, Michael Friez, Antony E. Shrimpton, Timothy T. Stenzel

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

Context.-Bioelectronic sensors, which combine microchip and biological components, are an emerging technology in clinical diagnostic testing. An electronic detection platform using DNA biochip technology (eSensor) is under development for molecular diagnostic applications. Owing to the novelty of these devices, demonstrations of their successful use in practical diagnostic applications are limited. Objective.-To assess the performance of the eSensor bioelectronic method in the validation of 6 Epstein-Barr virus-transformed blood lymphocyte cell lines with clinically important mutations for use as sources of genetic material for positive controls in clinical molecular genetic testing. Two cell lines carry mutations in the CFTR gene (cystic fibrosis), and 4 carry mutations in the HFE gene (hereditary hemochromatosis). Design.-Samples from each cell line were sent for genotype determination to 6 different molecular genetic testing facilities, including the laboratory developing the DNA biochips. In addition to the bioelectronic method, at least 3 different molecular diagnostic methods were used in the analysis of each cell line. Detailed data were collected from the DNA biochip output, and the genetic results were compared with those obtained using the more established methods. Results.-We report the successful use of 2 applications of the bioelectronic platform, one for detection of CFTR mutations and the other for detection of HFE mutations. In all cases, the results obtained with the DNA biochip were in concordance with those reported for the other methods. Electronic signal output from the DNA biochips clearly differentiated between mutated and wild-type alleles. This is the first report of the use of the cystic fibrosis detection platform. Conclusions.-Bioelectronic sensors for the detection of disease-causing mutations performed well when used in a "real-life" situation, in this case, a validation study of positive control blood lymphocyte cell lines with mutations of public health importance. This study illustrates the practical potential of emerging bioelectronic DNA detection technologies for use in current molecular diagnostic applications.

Original languageEnglish (US)
Pages (from-to)1565-1572
Number of pages8
JournalArchives of Pathology and Laboratory Medicine
Volume127
Issue number12
StatePublished - Dec 1 2003

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Hemochromatosis
Cystic Fibrosis
Technology
Mutation
Molecular Pathology
DNA
Cell Line
Genetic Testing
Molecular Biology
Blood Cells
Lymphocytes
Genes
Validation Studies
Human Herpesvirus 4
Public Health
Alleles
Genotype
Equipment and Supplies

All Science Journal Classification (ASJC) codes

  • Pathology and Forensic Medicine
  • Medical Laboratory Technology

Cite this

Bernacki, S. H., Farkas, D. H., Shi, W., Chan, V., Liu, Y., Beck, J. C., ... Stenzel, T. T. (2003). Bioelectronic Sensor Technology for Detection of Cystic Fibrosis and Hereditary Hemochromatosis Mutations. Archives of Pathology and Laboratory Medicine, 127(12), 1565-1572.

Bioelectronic Sensor Technology for Detection of Cystic Fibrosis and Hereditary Hemochromatosis Mutations. / Bernacki, Susan H.; Farkas, Daniel H.; Shi, Wenmei; Chan, Vivian; Liu, Yenbou; Beck, Jeanne C.; Bailey, Karen Snow; Pratt, Victoria M.; Monaghan, Kristin G.; Matteson, Karla; Schaefer, Frederick V.; Friez, Michael; Shrimpton, Antony E.; Stenzel, Timothy T.

In: Archives of Pathology and Laboratory Medicine, Vol. 127, No. 12, 01.12.2003, p. 1565-1572.

Research output: Contribution to journalArticle

Bernacki, SH, Farkas, DH, Shi, W, Chan, V, Liu, Y, Beck, JC, Bailey, KS, Pratt, VM, Monaghan, KG, Matteson, K, Schaefer, FV, Friez, M, Shrimpton, AE & Stenzel, TT 2003, 'Bioelectronic Sensor Technology for Detection of Cystic Fibrosis and Hereditary Hemochromatosis Mutations', Archives of Pathology and Laboratory Medicine, vol. 127, no. 12, pp. 1565-1572.
Bernacki, Susan H. ; Farkas, Daniel H. ; Shi, Wenmei ; Chan, Vivian ; Liu, Yenbou ; Beck, Jeanne C. ; Bailey, Karen Snow ; Pratt, Victoria M. ; Monaghan, Kristin G. ; Matteson, Karla ; Schaefer, Frederick V. ; Friez, Michael ; Shrimpton, Antony E. ; Stenzel, Timothy T. / Bioelectronic Sensor Technology for Detection of Cystic Fibrosis and Hereditary Hemochromatosis Mutations. In: Archives of Pathology and Laboratory Medicine. 2003 ; Vol. 127, No. 12. pp. 1565-1572.
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abstract = "Context.-Bioelectronic sensors, which combine microchip and biological components, are an emerging technology in clinical diagnostic testing. An electronic detection platform using DNA biochip technology (eSensor) is under development for molecular diagnostic applications. Owing to the novelty of these devices, demonstrations of their successful use in practical diagnostic applications are limited. Objective.-To assess the performance of the eSensor bioelectronic method in the validation of 6 Epstein-Barr virus-transformed blood lymphocyte cell lines with clinically important mutations for use as sources of genetic material for positive controls in clinical molecular genetic testing. Two cell lines carry mutations in the CFTR gene (cystic fibrosis), and 4 carry mutations in the HFE gene (hereditary hemochromatosis). Design.-Samples from each cell line were sent for genotype determination to 6 different molecular genetic testing facilities, including the laboratory developing the DNA biochips. In addition to the bioelectronic method, at least 3 different molecular diagnostic methods were used in the analysis of each cell line. Detailed data were collected from the DNA biochip output, and the genetic results were compared with those obtained using the more established methods. Results.-We report the successful use of 2 applications of the bioelectronic platform, one for detection of CFTR mutations and the other for detection of HFE mutations. In all cases, the results obtained with the DNA biochip were in concordance with those reported for the other methods. Electronic signal output from the DNA biochips clearly differentiated between mutated and wild-type alleles. This is the first report of the use of the cystic fibrosis detection platform. Conclusions.-Bioelectronic sensors for the detection of disease-causing mutations performed well when used in a {"}real-life{"} situation, in this case, a validation study of positive control blood lymphocyte cell lines with mutations of public health importance. This study illustrates the practical potential of emerging bioelectronic DNA detection technologies for use in current molecular diagnostic applications.",
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AU - Farkas, Daniel H.

AU - Shi, Wenmei

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AU - Liu, Yenbou

AU - Beck, Jeanne C.

AU - Bailey, Karen Snow

AU - Pratt, Victoria M.

AU - Monaghan, Kristin G.

AU - Matteson, Karla

AU - Schaefer, Frederick V.

AU - Friez, Michael

AU - Shrimpton, Antony E.

AU - Stenzel, Timothy T.

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N2 - Context.-Bioelectronic sensors, which combine microchip and biological components, are an emerging technology in clinical diagnostic testing. An electronic detection platform using DNA biochip technology (eSensor) is under development for molecular diagnostic applications. Owing to the novelty of these devices, demonstrations of their successful use in practical diagnostic applications are limited. Objective.-To assess the performance of the eSensor bioelectronic method in the validation of 6 Epstein-Barr virus-transformed blood lymphocyte cell lines with clinically important mutations for use as sources of genetic material for positive controls in clinical molecular genetic testing. Two cell lines carry mutations in the CFTR gene (cystic fibrosis), and 4 carry mutations in the HFE gene (hereditary hemochromatosis). Design.-Samples from each cell line were sent for genotype determination to 6 different molecular genetic testing facilities, including the laboratory developing the DNA biochips. In addition to the bioelectronic method, at least 3 different molecular diagnostic methods were used in the analysis of each cell line. Detailed data were collected from the DNA biochip output, and the genetic results were compared with those obtained using the more established methods. Results.-We report the successful use of 2 applications of the bioelectronic platform, one for detection of CFTR mutations and the other for detection of HFE mutations. In all cases, the results obtained with the DNA biochip were in concordance with those reported for the other methods. Electronic signal output from the DNA biochips clearly differentiated between mutated and wild-type alleles. This is the first report of the use of the cystic fibrosis detection platform. Conclusions.-Bioelectronic sensors for the detection of disease-causing mutations performed well when used in a "real-life" situation, in this case, a validation study of positive control blood lymphocyte cell lines with mutations of public health importance. This study illustrates the practical potential of emerging bioelectronic DNA detection technologies for use in current molecular diagnostic applications.

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