Genome Research cityscape

Home Help [Feedback] [For Subscribers] [Archive] [Search] [Contents]
QUICK SEARCH:   [advanced]


     

Genome Res. 13:1944-1951, 2003
©2003 by Cold Spring Harbor Laboratory Press; ISSN 1088-9051/03 $5.00
This Article
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Erratum (v13,p2759)
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 Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Telmer, C. A.
Right arrow Articles by Jarvik, J. W.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Telmer, C. A.
Right arrow Articles by Jarvik, J. W.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us   Add to Digg   Add to Reddit   Add to Technorati  
What's this?

Methods

Detection and Assignment of Mutations and Minihaplotypes in Human DNA Using Peptide Mass Signature Genotyping (PMSG): Application to the Human RDS/Peripherin Gene

Cheryl A. Telmer1,4, Adam R. Retchless1, Ashley D. Kinsey1, Yvette Conley2,3, Brian Rigatti2, Michael B. Gorin2 and Jonathan W. Jarvik1

1 SpectraGenetics LLC., Pittsburgh, Pennsylvania 15213, USA 2 Department of Ophthalmology and Department of Human Genetics, University of Pittsburgh, Pittsburgh, Pennsylvania 15213, USA 3 Department of Health Promotion and Development, University of Pittsburgh, Pittsburgh, Pennsylvania 15213, USA

Peptide mass-signature genotyping (PMSG) is a scanning genotyping method that identifies mutations and polymorphisms by translating the sequence of interest in more than one reading frame and measuring the masses of the resulting peptides by mass spectrometry. PMSG was applied to the RDS/peripherin gene of 16 individuals from a family exhibiting autosomal dominant macular degeneration. The method revealed an A->T transversion in the 5' splice site of intron 2 that is the likely cause of the disease. It also revealed four different minihaplotypes in exon 3 that represent particular combinations of SNPs at four different locations. This study demonstrates the utility of PMSG for identifying and characterizing point mutations and local minihaplotypes that are not readily analyzed by other approaches.

Article and publication are at http://www.genome.org/cgi/doi/10.1101/gr.995103.

4 Corresponding author. E-MAIL cheryl.telmer{at}spectragenetics.com; FAX (412) 802-6155.


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


This article has been cited by other articles:


Home page
 Mol. Cell. ProteomicsHome page
M. J. Roth, A. J. Forbes, M. T. Boyne II, Y.-B. Kim, D. E. Robinson, and N. L. Kelleher
Precise and Parallel Characterization of Coding Polymorphisms, Alternative Splicing, and Modifications in Human Proteins by Mass Spectrometry
Mol. Cell. Proteomics, July 1, 2005; 4(7): 1002 - 1008.
[Abstract] [Full Text] [PDF]


Home Help [Feedback] [For Subscribers] [Archive] [Search] [Contents]
Genes Dev. Learn. Mem.
Protein Science RNA Genome Res.
Copyright © 2003 by Cold Spring Harbor Laboratory Press.