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>