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Direct Molecular Haplotyping of Long-Range Genomic DNA with M1-PCR
Chunming Ding and Charles R. Cantor
Proceedings of the National Academy of Sciences of the United States of America
Vol. 100, No. 13 (Jun. 24, 2003), pp. 7449-7453
Published by: National Academy of Sciences
Stable URL: http://www.jstor.org/stable/3139766
Page Count: 5
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Haplotypes, combinations of several phase-determined polymorphic markers, are extremely valuable for studies of disease association and chromosome evolution. Here we describe a technique called M1-PCR (M for "multiplex" and 1 for "single-copy DNA molecules") that enables direct molecular haplotyping of several polymorphic markers separated by as many as 24 kb. A genomic DNA sample first is diluted to approximately single-copy. The haplotype is directly determined by simultaneously genotyping several polymorphic markers in the same reaction with a multiplex PCR and base extension reaction. This approach does not rely on pedigree data and does not require previous amplification of the entire genomic region containing the selected markers.
Proceedings of the National Academy of Sciences of the United States of America © 2003 National Academy of Sciences