Linking Emulsion PCR Haplotype Analysis

James G. Wetmur, Jia Chen

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

3 Scopus citations

Abstract

The experimental measurement of haplotype requires the determination of two or more genotypes on the same DNA molecule. Because such measurements are much more complicated than measurements of genotypes, haplotypes are typically inferred using population data for linkage disequilibrium between the markers of interest. We have developed a method for molecular haplotyping, linking emulsion PCR (LE-PCR), and have demonstrated that the method is sufficiently robust to determine haplotypes for multiple markers in a population setting. LE-PCR uses emulsion PCR to isolate single template molecules for simultaneous PCR of widely spaced markers and uses linking PCR to fuse these amplicons into one short amplicon, which maintains the phase of the markers. LE-PCR is illustrated for polymorphisms in human paraoxonase 1 (PON1) that have been shown to affect transcriptional activity and substrate specificity in the detoxification of organophosphates.

Original languageEnglish
Title of host publicationMethods in Molecular Biology
PublisherHumana Press Inc.
Pages165-175
Number of pages11
DOIs
StatePublished - 2011

Publication series

NameMethods in Molecular Biology
Volume687
ISSN (Print)1064-3745
ISSN (Electronic)1940-6029

Keywords

  • Emulsion PCR
  • Genotype
  • Haplotype
  • Linking PCR
  • Paraoxonase-1
  • Phenotype

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