One major goal of genetic research is to understand the role of genetic variation. By far the most common type of such variation in humans involves single DNA bases, and is termed single nucleotide polymorphism (SNP). In order that DNA chip technology continue to emerge as an alterative to conventional DNA diagnostic methods, questions about the conformation and activity of DNA on surfaces must be addressed. We developed three robust chemical methods for the covalent attachment of amino-modified oligonucleotides on glass surfaces based on polymeric coatings, providing robust platforms to prepare oligonucleotide arrays. We explored the feasibility of using oligonucleotide-array methods for molecular typing of a highly polymorphic genomic region by using the PCR-LDR strategy. We set up a low resolution microarray-based molecular tool for allele discrimination, which is of interest in clinical applications. Our goal was the identification of Single Nucleotide Polymorphisms in the Human LeukocyteAntigen gene. The methodology we proposed presents interesting features as genotyping tool: the reaction principle is robust, the assay easily automated, thereaction format flexible and capable to analyse different samples in parallel.

Development of DNA microarrays for human single nucleotide polymorphisms detection / C. Consolandi ; M.L. Villa, C. Battaglia, G. De Bellis. DIPARTIMENTO DI SCIENZE E TECNOLOGIE BIOMEDICHE, 2004. 16. ciclo, Anno Accademico 2002/2003.

Development of DNA microarrays for human single nucleotide polymorphisms detection

C. Consolandi
2004

Abstract

One major goal of genetic research is to understand the role of genetic variation. By far the most common type of such variation in humans involves single DNA bases, and is termed single nucleotide polymorphism (SNP). In order that DNA chip technology continue to emerge as an alterative to conventional DNA diagnostic methods, questions about the conformation and activity of DNA on surfaces must be addressed. We developed three robust chemical methods for the covalent attachment of amino-modified oligonucleotides on glass surfaces based on polymeric coatings, providing robust platforms to prepare oligonucleotide arrays. We explored the feasibility of using oligonucleotide-array methods for molecular typing of a highly polymorphic genomic region by using the PCR-LDR strategy. We set up a low resolution microarray-based molecular tool for allele discrimination, which is of interest in clinical applications. Our goal was the identification of Single Nucleotide Polymorphisms in the Human LeukocyteAntigen gene. The methodology we proposed presents interesting features as genotyping tool: the reaction principle is robust, the assay easily automated, thereaction format flexible and capable to analyse different samples in parallel.
2004
Microarray ; PCR ; LDR
Settore BIO/10 - Biochimica
Settore MED/04 - Patologia Generale
BATTAGLIA, CRISTINA
VILLA, MARIA LUISA
Doctoral Thesis
Development of DNA microarrays for human single nucleotide polymorphisms detection / C. Consolandi ; M.L. Villa, C. Battaglia, G. De Bellis. DIPARTIMENTO DI SCIENZE E TECNOLOGIE BIOMEDICHE, 2004. 16. ciclo, Anno Accademico 2002/2003.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/62035
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