Hierarchical high-throughput SNP genotyping of the human Y chromosome using MALDI-TOF mass spectrometry.
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 reac...
| Main Authors: | , , , |
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| Format: | Journal article |
| Language: | English |
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2002
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| _version_ | 1797058009485017088 |
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| author | Paracchini, S Arredi, B Chalk, R Tyler-Smith, C |
| author_facet | Paracchini, S Arredi, B Chalk, R Tyler-Smith, C |
| author_sort | Paracchini, S |
| collection | OXFORD |
| description | 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. |
| first_indexed | 2024-03-06T19:44:32Z |
| format | Journal article |
| id | oxford-uuid:21d19d46-ad00-4796-a2b5-917664df2a41 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-06T19:44:32Z |
| publishDate | 2002 |
| record_format | dspace |
| spelling | oxford-uuid:21d19d46-ad00-4796-a2b5-917664df2a412022-03-26T11:35:29ZHierarchical high-throughput SNP genotyping of the human Y chromosome using MALDI-TOF mass spectrometry.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:21d19d46-ad00-4796-a2b5-917664df2a41EnglishSymplectic Elements at Oxford2002Paracchini, SArredi, BChalk, RTyler-Smith, CWe 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. |
| spellingShingle | Paracchini, S Arredi, B Chalk, R Tyler-Smith, C Hierarchical high-throughput SNP genotyping of the human Y chromosome using MALDI-TOF mass spectrometry. |
| title | Hierarchical high-throughput SNP genotyping of the human Y chromosome using MALDI-TOF mass spectrometry. |
| title_full | Hierarchical high-throughput SNP genotyping of the human Y chromosome using MALDI-TOF mass spectrometry. |
| title_fullStr | Hierarchical high-throughput SNP genotyping of the human Y chromosome using MALDI-TOF mass spectrometry. |
| title_full_unstemmed | Hierarchical high-throughput SNP genotyping of the human Y chromosome using MALDI-TOF mass spectrometry. |
| title_short | Hierarchical high-throughput SNP genotyping of the human Y chromosome using MALDI-TOF mass spectrometry. |
| title_sort | hierarchical high throughput snp genotyping of the human y chromosome using maldi tof mass spectrometry |
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