title: Direct molecular haplotyping of long-range genomic DNA with M1-PCR.
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.
authors.affiliation: Bioinformatics Program and Center for Advanced Biotechnology, Boston University, 36 Cummington Street, Boston, MA 02215, USA.
authors.forename: Chunming
authors.initials: C
authors.lastname: Ding
authors.forename: Charles R
authors.initials: CR
authors.lastname: Cantor
mesh_terms: D002352:Carrier Proteins / Q000235:genetics; D053480:Cholesterol Ester Transfer Proteins; D004247:DNA / Q000032:analysis*; D017931:DNA Primers / Q000737:chemistry; D005821:Genetic Techniques; D015894:Genome, Human; D005838:Genotype; D006023:Glycoproteins; D006239:Haplotypes; D006801:Humans; D008957:Models, Genetic; D010375:Pedigree; D016133:Polymerase Chain Reaction / Q000379:methods*; D017422:Sequence Analysis, DNA / Q000379:methods*
chemical_list: C506642:CETP protein, human; D002352:Carrier Proteins; D053480:Cholesterol Ester Transfer Proteins; D017931:DNA Primers; D006023:Glycoproteins; D004247:DNA