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

  1. Cheryl A. Telmer1,4,
  2. Adam R. Retchless1,
  3. Ashley D. Kinsey1,
  4. Yvette Conley2,3,
  5. Brian Rigatti2,
  6. Michael B. Gorin2, and
  7. Jonathan W. Jarvik1
  1. 1 SpectraGenetics LLC., Pittsburgh, Pennsylvania 15213, USA
  2. 2 Department of Ophthalmology and Department of Human Genetics, University of Pittsburgh, Pittsburgh, Pennsylvania 15213, USA
  3. 3 Department of Health Promotion and Development, University of Pittsburgh, Pittsburgh, Pennsylvania 15213, USA

Abstract

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.

Footnotes

  • 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.

    • Accepted June 4, 2003.
    • Received November 14, 2002.
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  1. doi: 10.1101/gr.995103 Genome Res. 13: 1944-1951 Cold Spring Harbor Laboratory Press

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