Skip Navigation

This Article
Right arrow Full Text Freely available
Right arrow Print PDF (1283K) Freely available
Right arrow Supplementary Data
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Commercial Re-use Guidelines
for Open Access NAR Content
Google Scholar
Right arrow Articles by Paracchini, S.
Right arrow Articles by Tyler-Smith, C.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Paracchini, S.
Right arrow Articles by Tyler-Smith, C.
Related Collections
Right arrow Genomics
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

Nucleic Acids Research, 2002, Vol. 30, No. 6 e27
© 2002 Oxford University Press

Hierarchical high-throughput SNP genotyping of the human Y chromosome using MALDI-TOF mass spectrometry

Silvia Paracchini1, Barbara Arredi1,2, Rod Chalk1 and Chris Tyler-Smith1,*

1CRC Chromosome Molecular Biology Group, Department of Biochemistry, University of Oxford, South Parks Road, Oxford OX1 3QU, UK and 2Immunohematology Laboratory, Istituto di Medicina Legale, Università Cattolica del S. Cuore, Roma, largo F. Vito 1, Italy

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.

* To whom correspondence should be addressed. Tel: +44 1865 275222; Fax: +44 1865 275259; Email: chris{at}bioch.ox.ac.uk Present address:Rod Chalk, Oxford GlycoSciences (UK) Ltd, 86 Milton Park, Abingdon, Oxon OX14 4RY, UK


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 Hum Mol GenetHome page
M. A. Jobling, I. C. C. Lo, D. J. Turner, G. R. Bowden, A. C. Lee, Y. Xue, D. Carvalho-Silva, M. E. Hurles, S. M. Adams, Y. M. Chang, et al.
Structural variation on the short arm of the human Y chromosome: recurrent multigene deletions encompassing Amelogenin Y
Hum. Mol. Genet., February 1, 2007; 16(3): 307 - 316.
[Abstract] [Full Text] [PDF]

Home page
 GeneticsHome page
Y. Xue, T. Zerjal, W. Bao, S. Zhu, Q. Shu, J. Xu, R. Du, S. Fu, P. Li, M. E. Hurles, et al.
Male Demography in East Asia: A North-South Contrast in Human Population Expansion Times
Genetics, April 1, 2006; 172(4): 2431 - 2439.
[Abstract] [Full Text] [PDF]

Home page
 Clin. Chem.Home page
H.-Y. Kao, Y.-N. Su, H.-K. Liao, M. S. Liu, and Y.-J. Chen
Determination of SMN1/SMN2 Gene Dosage by a Quantitative Genotyping Platform Combining Capillary Electrophoresis and MALDI-TOF Mass Spectrometry
Clin. Chem., March 1, 2006; 52(3): 361 - 369.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
S Paracchini, C L Pearce, L N Kolonel, D Altshuler, B E Henderson, and C Tyler-Smith
A Y chromosomal influence on prostate cancer risk: the multi-ethnic cohort study
J. Med. Genet., November 1, 2003; 40(11): 815 - 819.
[Abstract] [Full Text] [PDF]


Disclaimer:
Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.