10.1184/R1/6097661.v1 Cheryl A. Telmer Cheryl A. Telmer Adam C. Retchless Adam C. Retchless Ashley D. Kinsey Ashley D. Kinsey Yvette Conley Yvette Conley Brian Rigatti Brian Rigatti Michael B Gorin Michael B Gorin Jonathan Jarvik Jonathan Jarvik Detection and assignment of mutations and minihaplotypes in human DNA using peptide mass signature genotyping (PMSG): application to the human RDS/peripherin gene. Carnegie Mellon University 2003 DNA Mutational Analysis Eye Proteins Female Genotype Haplotypes Humans Intermediate Filament Proteins Male Membrane Glycoproteins Mutation Nerve Tissue Proteins Pedigree Peptides Peripherins Retinal Degeneration Spectrometry Mass Matrix-Assisted Laser Desorption-Ionization 2003-08-01 00:00:00 Journal contribution https://kilthub.cmu.edu/articles/journal_contribution/Detection_and_assignment_of_mutations_and_minihaplotypes_in_human_DNA_using_peptide_mass_signature_genotyping_PMSG_application_to_the_human_RDS_peripherin_gene_/6097661 <p>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.</p>