Development of oligonucleotide arrays to detect mutations and polymorphisms

The determination of mutations and polymorphisms has a great relevance in molecular diagnosis. Parallel methods to accomplish such tasks are becoming more and more necessary in several applications, thanks to the growing number of studies demonstrating the associations between genotype and phenotype. In this paper, we present the methodology and the applications of oligonucleotide array technology to detect mutations and polymorphisms. An oligonucleotide array system for the identification of five polymorphic sites within HLA-A region, an oligo-chip to detect two mutations in BRCA1 gene and a novel approach for the rapid identification of microbial biodiversity in soil and water are described.