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Proc Natl Acad Sci U S A. 1990 Aug;87(16):6296-300.

Haplotype of multiple polymorphisms resolved by enzymatic amplification of single DNA molecules.

Author information

1
Department of Human Genetics, Yale University School of Medicine, New Haven, CT 06510.

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.

PMID:
1974719
PMCID:
PMC54520
DOI:
10.1073/pnas.87.16.6296
[Indexed for MEDLINE]
Free PMC Article

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