Summary
Genotypes are easily measured using a variety of experimental methods. However, experimental methods for measuring haplotypes, i.e., molecular haplotyping, are limited. Instead, haplotypes often are statistically inferred from genotype data with varying degrees of confidence, depending on the extent of linkage disequilibrium (LD) between markers. We have developed a method for molecular haplotyping, linking-emulsion polymerase chain reaction (LE-PCR), that should find application in studies where LD is limited, especially when the polymorphisms in question affect the function of a single gene product. We have illustrated this technology with the human paraoxonase 1 gene (PON1), where polymorphisms affecting transcription and enzymatic activity show incomplete LD. PON1 is an enzyme with multiple activities, including detoxification of organophosphates.
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Acknowledgments
This work was supported by Grants R21 ES011634 and P01 ES09584 from the National Institute of Environmental Health Sciences and RD831-711 from the Environmental Protection Administration.
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© 2008 Humana Press, a part of Springer Science+Business Media, LLC
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Wetmur, J.G., Chen, J. (2008). An Emulsion Polymerase Chain Reaction–Based Method for Molecular Haplotyping. In: Martin, C.C., Martin, C.C. (eds) Environmental Genomics. Methods in Molecular Biology, vol 410. Humana Press. https://doi.org/10.1007/978-1-59745-548-0_18
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DOI: https://doi.org/10.1007/978-1-59745-548-0_18
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