Hierarchical high-throughput SNP genotyping of the human Y chromosome using MALDI-TOF mass spectrometry |
| |
| Authors: | Paracchini Silvia Arredi Barbara Chalk Rod Tyler-Smith Chris |
| |
| Affiliation: | CRC Chromosome Molecular Biology Group, Department of Biochemistry, University of Oxford, South Parks Road, Oxford OX1 3QU, UK. |
| |
| Abstract: | We have established the use of a primer extension/mass spectrometry method (the PinPoint assay) for high-throughput SNP genotyping of the human Y chromosome. 118 markers were used to define 116 haplogroups and typing was organised in a hierarchical fashion. Twenty multiplex PCR/primer extension reactions were set up and each sample could be assigned to a haplogroup with only two to five of these multiplex analyses. A single aliquot of one enzyme was found to be sufficient for both PCR and primer extension. We observed 100% accuracy in blind validation tests. The technique thus provides a reliable, cost-effective and automated method for Y genotyping, and the advantages of using a hierarchical strategy can be applied to any DNA segment lacking recombination. |
| |
| Keywords: | |
| 本文献已被 PubMed 等数据库收录！ |
|
