Precise estimation of allele frequencies of single-nucleotide polymorphisms by a quantitative SSCP analysis of pooled DNA

T. Sasaki, T. Tahira, A. Suzuki, K. Higasa, Y. Kukita, S. Baba, K. Hayashi

研究成果: ジャーナルへの寄稿学術誌査読

80 被引用数 (Scopus)

抄録

We show that single-nucleotide polymorphisms (SNPs) of moderate to high heterozygosity (minor allele frequencies >10%) can be efficiently detected, and their allele frequencies accurately estimated, by pooling the DNA samples and applying a capillary-based SSCP analysis. In this method, alleles are separated into peaks, and their frequencies can be reliably and accurately quantified from their peak heights (SD <1.8%). We found that as many as 40% of publicly available SNPs that were analyzed by this method have widely differing allele frequency distributions among groups of different ethnicity (parents of Centre d'Etude Polymorphisme Humaine families vs. Japanese individuals). These results demonstrate the effectiveness of the present pooling method in the reevaluation of candidate SNPs that have been collected by examination of limited numbers of individuals. The method should also serve as a robust quantitative technique for studies in which a precise estimate of SNP allele frequencies is essential - for example, in linkage disequilibrium analysis.

本文言語英語
ページ(範囲)214-218
ページ数5
ジャーナルAmerican journal of human genetics
68
1
DOI
出版ステータス出版済み - 2001

!!!All Science Journal Classification (ASJC) codes

  • 遺伝学
  • 遺伝学(臨床)

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