title: Detection and assignment of mutations and minihaplotypes in human DNA using peptide mass signature genotyping (PMSG): application to the human RDS/peripherin gene.
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.
authors.affiliation: SpectraGenetics LLC, Pittsburgh, Pennsylvania 15213, USA. cheryl.telmer@spectragenetics.com
authors.forename: Cheryl A
authors.initials: CA
authors.lastname: Telmer
authors.forename: Adam C
authors.initials: AC
authors.lastname: Retchless
authors.forename: Ashley D
authors.initials: AD
authors.lastname: Kinsey
authors.forename: Yvette
authors.initials: Y
authors.lastname: Conley
authors.forename: Brian
authors.initials: B
authors.lastname: Rigatti
authors.forename: Michael B
authors.initials: MB
authors.lastname: Gorin
authors.forename: Jonathan W
authors.initials: JW
authors.lastname: Jarvik
authors.forename: Adam R
authors.initials: AR
authors.lastname: Retchless
mesh_terms: D004252:DNA Mutational Analysis / Q000379:methods; D005136:Eye Proteins / Q000737:chemistry / Q000235:genetics*; D005260:Female; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D007381:Intermediate Filament Proteins / Q000737:chemistry / Q000235:genetics*; D008297:Male; D008562:Membrane Glycoproteins / Q000737:chemistry / Q000235:genetics*; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000737:chemistry / Q000235:genetics*; D010375:Pedigree; D010455:Peptides / Q000737:chemistry / Q000235:genetics*; D064531:Peripherins; D012162:Retinal Degeneration / Q000235:genetics*; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization / Q000379:methods
chemical_list: D005136:Eye Proteins; D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; C578994:PRPH protein, human; C578997:PRPH2 protein, human; D010455:Peptides; D064531:Peripherins