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Human Molecular Genetics, 2001, Vol. 10, No. 16 1657-1664
© 2001 Oxford University Press

Mismatch repair detection (MRD): high-throughput scanning for DNA variations

Malek Faham, Siamak Baharloo, Shinichiro Tomitaka, Joe DeYoung and Nelson B. Freimer+

Neurogenetics Laboratory, Department of Psychiatry, University of California San Francisco, San Francisco, CA 94143, USA

Although there are several methods for genotyping previously identified single nucleotide polymorphisms (SNPs), there is a paucity of approaches for high-throughput scanning for unknown variations. Mismatch repair detection (MRD) utilizes a bacterial mismatch repair system in vivo to detect sequence variants in human DNA samples. We describe modifications in MRD that allow a high degree of parallel processing, and use this modified version to accurately scan for variations in 35 different human DNA fragments simultaneously. MRD’s potential for high-throughput scanning can be used to identify new SNPs and to comprehensively compare sequences between patients and controls for identifying disease susceptibility alleles.

+ To whom correspondence should be addressed at: UCLA Center for Neurobehavioral Genetics, 695 Charles E. Young Drive South, Gonda Building, Room 3506, Los Angeles, CA 90095-1761, USA. Tel: +1 310 794 9571; Fax: +1 310 794 9613; Email: nfreimer@mednet.ucla.eduPresent addresses: Malek Faham, Stanford Genome Technology Center, 855 California Avenue, Palo Alto, CA 94304, USASiamak Baharloo, Double Twist Inc., Oakland, CA 94612, USAShinichiro Tomitaka, Department of Psychiatry, Tokyo Women’s Medical University, Kawada-cho 8-1, Shijuku-ku, Tokyo, JapanJoe De Young, Genomics Core Facility, University of California San Francisco, San Francisco, CA 94304, USANelson B. Freimer, Center for Neurobehavioral Genetics, Departments of Psychiatry and Human Genetics, University of California Los Angeles, Los Angeles, CA 90095, USA


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