Multiplex Single-Nucleotide Polymorphism Typing of the Human Y Chromosome Using TaqMan Probes

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Department of Anthropology Papers
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Y-chromosome variation
single-nucleotide polymorphisms
SNPs
Anthropology
Genetics and Genomics
Social and Behavioral Sciences
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Genographic Consortium
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Background The analysis of human Y-chromosome variation in the context of population genetics and forensics requires the genotyping of dozens to hundreds of selected single-nucleotide polymorphisms (SNPs). In the present study, we developed a 121-plex (121 SNPs in a single array) TaqMan array capable of distinguishing most haplogroups and subhaplogroups on the Y-chromosome human phylogeny in Europe. Results We present data from 264 samples from several European areas and ethnic groups. The array developed in this study shows >99% accuracy of assignation to the Y human phylogeny (with an average call rate of genotypes >96%). Conclusions We have created and evaluated a robust and accurate Y-chromosome multiplex which minimises the possible errors due to mixup when typing the same sample in several independent reactions.

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2011-05-31
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Investigative Genetics
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Theodore G. Schurr is not listed as an individual author on this paper but is part of the Genographic Consortium. A full list of Genographic Consortium members for this paper can be found in the Acknowledgements.
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