RT Journal
A1 Telmer, Cheryl A.
A1 Retchless, Adam R.
A1 Kinsey, Ashley D.
A1 Conley, Yvette
A1 Rigatti, Brian
A1 Gorin, Michael B.
A1 Jarvik, Jonathan W.
T1 Detection and Assignment of Mutations and Minihaplotypes in Human DNA  Using Peptide Mass Signature Genotyping (PMSG): Application to the Human  RDS/Peripherin Gene
JF Genome Research 
JO Genome Research 
YR 2003 
FD August 01 
VO 13 
IS 8 
SP 1944 
OP 1951 
DO 10.1101/gr.995103 
UL http://genome.cshlp.org/content/13/8/1944.abstract 
AB 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.