Detection and assignment of mutations and minihaplotypes in human DNA using peptide mass signature genotyping (PMSG): application to the human RDS/peripherin gene.
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ABSTRACT:
SUBMITTER: Telmer CA
PROVIDER: S-EPMC403787 | biostudies-literature | 2003 Aug
REPOSITORIES: biostudies-literature
Publications
Detection and assignment of mutations and minihaplotypes in human DNA using peptide mass signature genotyping (PMSG): application to the human RDS/peripherin gene.
Telmer Cheryl A CA Retchless Adam C AC Kinsey Ashley D AD Conley Yvette Y Rigatti Brian B Gorin Michael B MB Jarvik Jonathan W JW
Genome research 20030801 8
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 dis ...[more]
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