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SNaPshot® minisequencing analysis of multiple ancestry-informative Y-SNPs using capillary electrophoresis

Maria Geppert1, Lutz Roewer

  • 1Department of Forensic Genetics, Institute of Legal Medicine and Forensic Sciences, Charité-Universitätsmedizin, Berlin, Germany. maria.geppert@charite.de

Methods in Molecular Biology (Clifton, N.J.)
|December 6, 2011
PubMed

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Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...