title: Microarray-based detection of Korean-specific BRCA1 mutations.
abstract: A reliable multiplex assay procedure to detect human genetic mutations in the breast cancer susceptibility gene BRCA1 using zip-code microarrays and single base extension (SBE) reactions is described. Multiplex PCR amplification was performed to amplify the genomic regions containing the mutation sites. The PCR products were then employed as templates in subsequent multiplex SBE reactions using bifunctional primers carrying a unique complementary zip sequence in addition to a mutation-site-specific sequence. The SBE primers, terminating one base before their mutation sites, were extended by a single base at a mutation site with a corresponding biotin-labeled ddNTP. Hybridization of the SBE products to zip-code microarrays was followed by staining with streptavidin-Cy3, leading to successful genotyping of several selected BRCA1 mutation sites with wild-type and heterozygote mutant samples from breast cancer patients. This work has led to the development of a reliable DNA microarray-based system for the diagnosis of human genetic mutations.
authors: Department of Chemical and Biomolecular Engineering, KAIST, 373-1 Guseong-dong, Yuseong-gu, Daejeon, 305-701, Republic of Korea.
authors: Cheulhee
authors: C
authors: Jung
authors: Seong-Chun
authors: SC
authors: Yim
authors: Dae-Yeon
authors: DY
authors: Cho
authors: Ho Nam
authors: HN
authors: Chang
authors: Hyun Gyu
authors: HG
authors: Park
mesh_terms: D019313:BRCA1 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D005820:Genetic Testing / Q000379:methods; D005838:Genotype; D006801:Humans; D007723:Korea; D009154:Mutation; D020411:Oligonucleotide Array Sequence Analysis / Q000295:instrumentation / Q000379:methods
chemical_list: D019313:BRCA1 Protein