Paul Galvin | Search PubMed

PubMed2004

Microarray analysis in cystic fibrosis.

DNA microarrays provide a versatile platform for applications including gene expression analysis and genotyping. In the case of cystic fibrosis (CF), DNA microarrays enable the measurement of gene expression levels of thousands of genes in parallel, and potentially therefore, to identify non-CFTR genes down- or up-regulated in CF, which could lead to insights into disease pathophysiology, as well as novel molecular markers and therapeutic strategies. Moreover, using optimised microarray protocols based on either primer extension analysis (i.e. minisequencing) or electronic hybridisation stringency control, the potential now exists to detect all relevant CFTR mutations on a single DNA microarray as a novel platform for CF screening.

Cystic Fibrosis↗

PubMed2002

A nanobiotechnology roadmap for high-throughput single nucleotide polymorphism analysis.

Genetic analysis based on single nucleotide polymorphisms (SNPs) has the potential to enable identification of genes associated with disease susceptibility, to facilitate improved understanding and diagnosis of those diseases, and should ultimately contribute to the provision of new therapies. To achieve this end, new technology platforms are required that can increase genotyping throughput, while simultaneously reducing costs by as much as two orders of magnitude. Development of a variety of genotyping platforms with the potential to resolve this dilemma is already well advanced through research in the field of nanobiotechnology. Novel approaches to DNA extraction and amplification have reduced the times required for these processes to seconds. Microfluidic devices enable polymorphism detection through very rapid fragment separation using capillary electrophoresis and high-performance liquid chromatography, together with mixing and transport of reagents and biomolecules in integrated systems. The potential for application of established microelectronic fabrication processes to genetic analyses systems has been demonstrated (e.g. photolithography-based in situ synthesis of oligonucleotides on microarrays). Innovative application of state-of-the-art photonics and integrated circuitry are leading to improved detection capabilities. The diversity of genotyping applications envisaged in the future, ranging from the very high-throughput requirements for drug discovery through to rapid and cheap near-patient genotype analysis, suggests that several SNP genotyping platforms will be necessary to optimally address the different niches.

Genetic Predisposition to Disease↗