Abstract
Background. The need of developing advanced methodologies; for mutation identification has been raising in the last few years. This is principally due to the identification of an increasing number of genetic variations associated with human diseases. Microarrays are a modern DNA diagnostic tool, allowing the rapid analysis of a large cohort of patients for a huge number of allelic variants. Methods. In the present study we have employed a new microelectronic based technology: the NMW 1000 NanoChip™ Molecular Biology Workstation (Nanogen, San Diego, CA), that enables the active movement of charged molecules to designated test sites. We developed assays for the identification of some common Italian mutations in the retina-specific ABC transporter (ABCA4) gene, involved in Stargardt disease. Assays were validated by a retrospective study on a large number of wild type and mutated samples. Results. Comparison of the results obtained with the Nanogen technology and those obtained with other methods showed a complete concordance. Conclusions. In our experience, the microelectronic technology developed by Nanogen allowed to overcome some of the limitations due to passive hybridization. This, coupled to the possibility of assembling different combinations of specific probes onto a microchip to perform customized analyses, could improve the efficiency of mutation identification in a variety of genetic diagnostic applications.
| Original language | English |
|---|---|
| Pages (from-to) | 241-246 |
| Number of pages | 6 |
| Journal | Minerva Biotecnologica |
| Volume | 14 |
| Issue number | 3-4 |
| Publication status | Published - Dec 2002 |
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Keywords
- Mutation
- Oligonucleotide array sequence analysis
- Polymorphism, single nucleotide
- Retina-specific ABC transporter gene
ASJC Scopus subject areas
- Biotechnology
- Applied Microbiology and Biotechnology
- Bioengineering
Cite this
Single nucleotide polymorphism and mutation identification by microelectronic chip technology. / Stenirri, Stefania; Foglieni, B.; Manitto, M. P.; Martina, E.; Brancato, R.; Cremonesi, L.; Ferrari, M.
In: Minerva Biotecnologica, Vol. 14, No. 3-4, 12.2002, p. 241-246.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Single nucleotide polymorphism and mutation identification by microelectronic chip technology
AU - Stenirri, Stefania
AU - Foglieni, B.
AU - Manitto, M. P.
AU - Martina, E.
AU - Brancato, R.
AU - Cremonesi, L.
AU - Ferrari, M.
PY - 2002/12
Y1 - 2002/12
N2 - Background. The need of developing advanced methodologies; for mutation identification has been raising in the last few years. This is principally due to the identification of an increasing number of genetic variations associated with human diseases. Microarrays are a modern DNA diagnostic tool, allowing the rapid analysis of a large cohort of patients for a huge number of allelic variants. Methods. In the present study we have employed a new microelectronic based technology: the NMW 1000 NanoChip™ Molecular Biology Workstation (Nanogen, San Diego, CA), that enables the active movement of charged molecules to designated test sites. We developed assays for the identification of some common Italian mutations in the retina-specific ABC transporter (ABCA4) gene, involved in Stargardt disease. Assays were validated by a retrospective study on a large number of wild type and mutated samples. Results. Comparison of the results obtained with the Nanogen technology and those obtained with other methods showed a complete concordance. Conclusions. In our experience, the microelectronic technology developed by Nanogen allowed to overcome some of the limitations due to passive hybridization. This, coupled to the possibility of assembling different combinations of specific probes onto a microchip to perform customized analyses, could improve the efficiency of mutation identification in a variety of genetic diagnostic applications.
AB - Background. The need of developing advanced methodologies; for mutation identification has been raising in the last few years. This is principally due to the identification of an increasing number of genetic variations associated with human diseases. Microarrays are a modern DNA diagnostic tool, allowing the rapid analysis of a large cohort of patients for a huge number of allelic variants. Methods. In the present study we have employed a new microelectronic based technology: the NMW 1000 NanoChip™ Molecular Biology Workstation (Nanogen, San Diego, CA), that enables the active movement of charged molecules to designated test sites. We developed assays for the identification of some common Italian mutations in the retina-specific ABC transporter (ABCA4) gene, involved in Stargardt disease. Assays were validated by a retrospective study on a large number of wild type and mutated samples. Results. Comparison of the results obtained with the Nanogen technology and those obtained with other methods showed a complete concordance. Conclusions. In our experience, the microelectronic technology developed by Nanogen allowed to overcome some of the limitations due to passive hybridization. This, coupled to the possibility of assembling different combinations of specific probes onto a microchip to perform customized analyses, could improve the efficiency of mutation identification in a variety of genetic diagnostic applications.
KW - Mutation
KW - Oligonucleotide array sequence analysis
KW - Polymorphism, single nucleotide
KW - Retina-specific ABC transporter gene
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UR - http://www.scopus.com/inward/citedby.url?scp=0036972918&partnerID=8YFLogxK
M3 - Article
AN - SCOPUS:0036972918
VL - 14
SP - 241
EP - 246
JO - Minerva Biotecnologica
JF - Minerva Biotecnologica
SN - 1120-4826
IS - 3-4
ER -