Abstract
Determining the long-range haplotypes in a diploid individual is a major technical challenge. Here we report a method of molecular haplotyping by directly imaging multiple polymorphic sites on individual human DNA molecules simultaneously. We demonstrate the utility of this technology by accurately determining the haplotypes consisting of up to 16 single-nucleotide polymorphisms in genomic regions up to 50 kilobases.
Publication types
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Research Support, N.I.H., Extramural
MeSH terms
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Carbocyanines / chemistry
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Chromosomes, Human, Pair 17 / genetics
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Chromosomes, Human, Pair 7 / genetics
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Chromosomes, Human, Pair 8 / genetics
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DNA / chemistry
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DNA Primers / chemistry
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DNA, Single-Stranded / chemistry
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DNA-Directed DNA Polymerase / chemistry
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Exodeoxyribonucleases / chemistry
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Genetic Techniques
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Haplotypes*
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Heterozygote
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Homozygote
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Humans
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Microscopy, Fluorescence / methods
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Polymerase Chain Reaction / methods
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Polymorphism, Single Nucleotide*
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Sequence Analysis, DNA / methods*
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Staining and Labeling / methods
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Tissue Plasminogen Activator / genetics
Substances
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Carbocyanines
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DNA Primers
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DNA, Single-Stranded
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cyanine dye 3
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cyanine dye 5
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DNA
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DNA-Directed DNA Polymerase
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Exodeoxyribonucleases
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PLAT protein, human
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Tissue Plasminogen Activator