Article
Precise estimation of allele frequencies of single-nucleotide polymorphisms by a quantitative SSCP analysis of pooled DNA.
American journal of human genetics - 1 Jan 2001
Sasaki T, Tahira T, Suzuki A, Higasa K, Kukita Y, Baba S, Hayashi K
Abstract excerpt
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...
Topics
- Alleles
- Antisense Elements (Genetics)
- Base Sequence
- DNA
- DNA Mutational Analysis
- Gene Frequency
- Genetic Testing
- Humans
- Polymorphism, Single Nucleotide
- Polymorphism, Single-Stranded Conformational
- Reproducibility of Results
- Sensitivity and Specificity