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Microarray-based detection of Korean-specific BRCA1 mutations

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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.

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Acknowledgements

This work was supported by the Korea Research Foundation Grant funded by the Korean Government (MOEHRD, KRF-2006–331-D00114) and by the Brain Korea 21 (BK21) program and the Center for Ultramicrochemical Process Systems sponsored by KOSEF.

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Authors and Affiliations

  1. Department of Chemical and Biomolecular Engineering, KAIST, 373–1 Guseong-dong, Yuseong-gu, Daejeon, 305–701, Republic of Korea

    Cheulhee Jung, Seong-Chun Yim, Ho Nam Chang & Hyun Gyu Park

  2. Research Director Clinical Research Institute Labgenomics Co. Ltd., Doo San Engineering Center, Seongbok Dong, Yong-In, 449–795 Gyeonggi, Republic of Korea

    Dae-Yeon Cho

Authors
  1. Cheulhee Jung
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  2. Seong-Chun Yim
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  3. Dae-Yeon Cho
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  4. Ho Nam Chang
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  5. Hyun Gyu Park
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Corresponding author

Correspondence to Hyun Gyu Park.

Additional information

Cheulhee Jung and Seong-Chun Yim contributed equally to this work.

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Jung, C., Yim, SC., Cho, DY. et al. Microarray-based detection of Korean-specific BRCA1 mutations. Anal Bioanal Chem 391, 405–413 (2008). https://doi.org/10.1007/s00216-008-1988-x

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  • DOI: https://doi.org/10.1007/s00216-008-1988-x

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