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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
Stable URL: http://www.jstor.org/stable/3139766
Page Count: 5
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Direct Molecular Haplotyping of Long-Range Genomic DNA with M1-PCR
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Abstract

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.

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