PMID- 15766735
OWN - NLM
STAT- MEDLINE
DCOM- 20050620
LR  - 20091119
IS  - 0009-9120 (Print)
IS  - 0009-9120 (Linking)
VI  - 38
IP  - 4
DP  - 2005 Apr
TI  - Genotyping single nucleotide polymorphisms by MALDI mass spectrometry in clinical 
      applications.
PG  - 335-50
AB  - Matrix-assisted laser desorption/ionization time-of-flight (MALDI-TOF) mass 
      spectrometry has become one of the most powerful and widely applied technologies 
      for SNP scoring and determination of allele frequencies in the post-genome 
      sequencing era. Although different strategies for allele discrimination combined 
      with MALDI were devised, in practice only primer extension methods are nowadays 
      routinely used. This combination enables the rapid, quantitative, and direct 
      detection of several genetic markers simultaneously in a broad variety of 
      biological samples. In the field of molecular diagnostics, MALDI has been applied 
      to the discovery of genetic markers, that are associated with a phenotype like a 
      disease susceptibility or drug response, as well as an alternative means for 
      diagnostic testing of a range of diseases for which the responsible mutations are 
      already known. It is one of the first techniques with which whole genome scans 
      based on single nucleotide polymorphisms were carried out. It is equally well 
      suited for pathogen identification and the detection of emerging mutant strains 
      as well as for the characterization of the genetic identity and quantitative 
      trait loci mapping in farm animals. MALDI can also be used as a detection 
      platform for a range of novel applications that are more demanding than standard 
      SNP genotyping such as mutation/polymorphism discovery, molecular haplotyping, 
      analysis of DNA methylation, and expression profiling. This review gives an 
      introduction to the application of mass spectrometry for DNA analysis, and 
      provides an overview of most studies using SNPs as genetic markers and MALDI mass 
      spectrometric detection that are related to clinical applications and molecular 
      diagnostics. Further, it aims to show specialized applications that might lead to 
      diagnostic applications in the future. It does not speculate on whether this 
      methodology will ever reach the diagnostic market.
FAU - Tost, Jorg
AU  - Tost J
AD  - Centre National de Genotypage, Batiment G2, 2 Rue Gaston Cremieux, CP 5721, 91057 
      Evry Cedex, France.
FAU - Gut, Ivo Glynne
AU  - Gut IG
LA  - eng
PT  - Journal Article
PT  - Review
PL  - United States
TA  - Clin Biochem
JT  - Clinical biochemistry
JID - 0133660
RN  - 0 (Genetic Markers)
SB  - IM
MH  - Animals
MH  - Base Sequence
MH  - Genetic Markers
MH  - Genetic Testing/*methods
MH  - Genotype
MH  - Humans
MH  - *Polymorphism, Single Nucleotide
MH  - Sensitivity and Specificity
MH  - Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization/*methods
RF  - 142
EDAT- 2005/03/16 09:00
MHDA- 2005/06/21 09:00
CRDT- 2005/03/16 09:00
PHST- 2004/07/13 00:00 [received]
PHST- 2004/11/22 00:00 [revised]
PHST- 2004/12/09 00:00 [accepted]
PHST- 2005/03/16 09:00 [pubmed]
PHST- 2005/06/21 09:00 [medline]
PHST- 2005/03/16 09:00 [entrez]
AID - S0009-9120(04)00360-1 [pii]
AID - 10.1016/j.clinbiochem.2004.12.005 [doi]
PST - ppublish
SO  - Clin Biochem. 2005 Apr;38(4):335-50. doi: 10.1016/j.clinbiochem.2004.12.005.