title: Rapid Detection of the Three Celiac Disease Risk Genotypes HLA-DQ2.2, HLA-DQ2.5, and HLA-DQ8 by Multiplex Ligation-Dependent Probe Amplification.
abstract: BACKGROUND
  Genotyping of HLA-DQ2.2, HLA-DQ2.5, and HLA-DQ8 is important in celiac disease (CD). The absence of these three genotypes has a strong negative predictive value.
  
  
  METHODS
  We designed multiplex ligation-dependent probe amplification (MLPA) for the combined detection of HLA-DQ2.2, HLA-DQ2.5, and HLA-DQ8. The MLPA probe mix was validated against a set of 59 samples characterized by conventional techniques.
  
  
  RESULTS
  The MLPA assay genotyped all 59 samples correctly when compared to the results obtained by PCR-SSCP/HD or PCR-SSO and PCR-SSP.
  
  
  CONCLUSIONS
  The MLPA assay provides a reliable single-reaction analysis of the CD risk genotypes HLA-DQ2.2, HLA-DQ2.5, and HLA-DQ8 allowing for stratification or exclusion of disease risk.
authors.affiliation: 1 MRC-Holland BV , Amsterdam, The Netherlands .
authors.forename: Raymon
authors.initials: R
authors.lastname: Vijzelaar
authors.affiliation: 2 Department of Clinical Chemistry, Hematology and Immunology , Diakonessenhuis, Utrecht, The Netherlands .
authors.forename: Ellen
authors.initials: E
authors.lastname: van der Zwan
authors.affiliation: 3 Department of Clinical Chemistry and Hematology, Amphia Hospital , Breda, The Netherlands .
authors.forename: Adriaan
authors.initials: A
authors.lastname: van Gammeren
authors.affiliation: 1 MRC-Holland BV , Amsterdam, The Netherlands .
authors.forename: Rizkat
authors.initials: R
authors.lastname: Yilmaz
authors.affiliation: 2 Department of Clinical Chemistry, Hematology and Immunology , Diakonessenhuis, Utrecht, The Netherlands .
authors.forename: Alice
authors.initials: A
authors.lastname: Verheul
authors.affiliation: 4 Department of Pathology, VU University Medical Center , Amsterdam, The Netherlands .
authors.forename: Ingrid
authors.initials: I
authors.lastname: van Hoogstraten
authors.affiliation: 3 Department of Clinical Chemistry and Hematology, Amphia Hospital , Breda, The Netherlands .
authors.forename: Ellen
authors.initials: E
authors.lastname: de Baar
authors.affiliation: 3 Department of Clinical Chemistry and Hematology, Amphia Hospital , Breda, The Netherlands .
authors.forename: Lianne
authors.initials: L
authors.lastname: Schrauwen
authors.affiliation: 2 Department of Clinical Chemistry, Hematology and Immunology , Diakonessenhuis, Utrecht, The Netherlands .
authors.forename: Wouter
authors.initials: W
authors.lastname: Kortlandt
mesh_terms: D000483:Alleles; D002446:Celiac Disease / Q000097:blood / Q000235:genetics*; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006683:HLA-DQ Antigens / Q000097:blood / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D060885:Multiplex Polymerase Chain Reaction / Q000379:methods; D012307:Risk Factors
chemical_list: D006683:HLA-DQ Antigens; C053186:HLA-DQ2 antigen; C109756:HLA-DQ8 antigen