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PubMed · 12140338

An efficient haplotyping method with DNA pools.

Ester Inbar·Benjamin Yakir·Ariel Darvasi
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Abstract

Determination of haplotype frequencies (the joint distribution of genetic markers) in large population samples is a powerful tool for association studies. This is due to their greater extent of polymorphism since any two bi-allelic single nucleotide polymorphisms (SNPs) generate a potential four-allele genetic marker. Therefore, a haplotype may capture a given functional polymorphism with higher statistical power than its SNP components. The statistical estimation of haplotype frequencies, usually employed in linkage disequilibrium studies, requires individual genotyping for each SNP in the haplotype, thus making it an expensive process. In this study, we describe a new method for direct measurement of haplotype frequencies in DNA pools by allele-specific, long-range haplotype amplification. The proposed method allows the efficient determination of haplotypes composed of two SNPs in close vicinity (up to 20 kb).

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Gene FrequencyGenotypeHaplotypesHumansPolymerase Chain ReactionPolymorphism, Single NucleotideSequence Analysis, DNAJournal ArticleResearch Support, Non-U.S. Gov't

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Ester Inbar, Benjamin Yakir, Ariel Darvasi. 2002-08-01. An efficient haplotyping method with DNA pools.. https://doi.org/10.1093/nar%2Fgnf075

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