Detection and assignment of mutations and minihaplotypes in human DNA using peptide mass signature genotyping (PMSG): Application to the human RDS/peripherin gene

Genome Research

Volumn 13, Issue 8, 2003, Pages 1944-1951

  Telmer, Cheryl A ^a   Retchless, Adam R ^a   Kinsey, Ashley D ^a   Conley, Yvette ^b,c   Rigatti, Brian ^b   Gorin, Michael B ^b   Jarvik, Jonathan W ^a  

^a SpectraGenetics LLC   (United States)

^b UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF PITTSBURGH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; DNA; PERIPHERIN; RNA; TYROSINE;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; FAMILY STUDY; FEMALE; GENE LOCATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GENOTYPE; HAPLOTYPE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HUMAN CELL; INTRON; MALE; MASS SPECTROMETRY; MATRIX ASSISTED LASER DESORPTION IONIZATION TIME OF FLIGHT MASS SPECTROMETRY; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINA MACULA DEGENERATION; RNA SPLICING; RNA TRANSLATION; SINGLE NUCLEOTIDE POLYMORPHISM;

DNA MUTATIONAL ANALYSIS; EYE PROTEINS; FEMALE; GENOTYPE; HAPLOTYPES; HUMANS; INTERMEDIATE FILAMENT PROTEINS; MALE; MEMBRANE GLYCOPROTEINS; MUTATION; NERVE TISSUE PROTEINS; PEDIGREE; PEPTIDES; RETINAL DEGENERATION; SPECTROMETRY, MASS, MATRIX-ASSISTED LASER DESORPTION-IONIZATION;

EID: 0042525749     PISSN: 10889051     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (9)

1. Boesze-Battaglia, K. and Goldberg, A.F. 2002. Photoreceptor renewal: A role for peripherin/rds. Int. Rev. Cytol. 217: 183-225.
2. Garvin, A.M., Parker, K.C., and Haff, L. 2000. MALDI-TOF based mutation detection using tagged in vitro synthesized peptides. Nat. Biotechnol. 18: 95-97.
3. Gorin, M.B., Jackson, K.E., Ferrell, R.E., Sheffield, V.C., Jacobson, S.G., Gass, J.D., Mitchell, E., and Stone, E.M. 1995. A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration. Ophthalmology 102: 246-255.
4. Jordan, S.A., Farrar, G.J., Kenna, P., and Humphries, P. 1992. Polymorphic variation within "conserved" sequences at the 3′ end of the human RDS gene which results in amino acid substitutions. Hum. Mutat. 1: 240-247.
5. Miller, S., Dykes, D., and Polesky, H. 1988. A simple salting and procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 16: 1215.
6. Nelson, R.W., Jarvik, J.W., Taillon, B.E., and Tubbs, K.A. 1999. BIA/MS of epitope-tagged peptides directly from E. coli lysate: Multiplex detection and protein identification at low-femtomole to subfemtomole levels. Anal. Chem. 71: 2858-2865.
7. Sullivan, L.S., Guilford, S.R., Birch, D.G., and Daiger, S.P. 1996. A novel splice site mutation in the gene for peripherin/RDS causing dominant retinal degeneration. Invest. Ophthalmol. Vis. Sci. S1146.
8. Weeks, D.E., Conley, Y.P., Mah, T.S., Paul, T.O., Morse, L., Ngo-Chang, J., Dailey, J.P., Ferrell, R.E., and Gorin, M.B. 2000. A full genome scan for age-related maculopathy. Hum. Mol. Genet. 9: 1329-1349.
9. Zhang, M.Q. 1998. Statistical features of human exons and their flanking regions. Hum. Mol. Genet. 5: 919-932.