Abstract
We have developed a reliable method for the direct resolution of haplotypes or linkage phase from individuals who are multiply heterozygous in a given genomic region. The method is based on single-molecule dilution (SMD) of genomic template and amplification via biphasic polymerase chain reaction (booster PCR). We have verified the feasibility of the SMD method for a highly polymorphic region within the beta-globin cluster by analysis of triply heterozygous individuals of known haplotype. This approach should be useful in many studies in population or evolutionary genetics and in a variety of clinical settings.
Publication types
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Research Support, U.S. Gov't, Non-P.H.S.
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Base Sequence
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DNA / genetics*
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Deoxyribonucleases, Type II Site-Specific
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European Continental Ancestry Group / genetics
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Genetic Carrier Screening
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Genetic Linkage
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Haplotypes*
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Humans
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Molecular Sequence Data
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Nucleic Acid Amplification Techniques*
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Oligonucleotide Probes
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Polymerase Chain Reaction / methods*
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Polymorphism, Genetic*
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Polymorphism, Restriction Fragment Length*
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Tourette Syndrome / genetics
Substances
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Oligonucleotide Probes
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DNA
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Deoxyribonucleases, Type II Site-Specific
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TCGA-specific type II deoxyribonucleases