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1.
Rapid Detection of the Three Celiac Disease Risk Genotypes HLA-DQ2.2, HLA-DQ2.5, and HLA-DQ8 by Multiplex Ligation-Dependent Probe Amplification.
Vijzelaar, Raymon; van der Zwan, Ellen; van Gammeren, Adriaan; Yilmaz, Rizkat; Verheul, Alice; van Hoogstraten, Ingrid; de Baar, Ellen; Schrauwen, Lianne; Kortlandt, Wouter.
Genet Test Mol Biomarkers ; 20(3): 158-61, 2016 Mar.
Article in English | MEDLINE | ID: mdl-26798991

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. CONCLUSION: 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.


Subject(s)
Celiac Disease/genetics , HLA-DQ Antigens/genetics , Alleles , Celiac Disease/blood , Gene Frequency/genetics , Genetic Predisposition to Disease , Genotype , HLA-DQ Antigens/blood , Haplotypes , Humans , Multiplex Polymerase Chain Reaction/methods , Risk Factors
2.
Compound heterozygous C282Y/Q283P and Q283P/H63D mutations in haemochromatosis.
van Gammeren, Adriaan; de Baar, Ellen; Schrauwen, Lianne; van Wijngaarden, Peter.
Br J Haematol ; 171(4): 650-1, 2015 Nov.
Article in English | MEDLINE | ID: mdl-25850353

Subject(s)
Hemochromatosis/genetics , Histocompatibility Antigens Class I/genetics , Membrane Proteins/genetics , Mutation, Missense , Point Mutation , Adolescent , Amino Acid Substitution , Female , Hemochromatosis Protein , Heterozygote , Histocompatibility Antigens Class I/chemistry , Hot Temperature , Humans , Male , Membrane Proteins/chemistry , Middle Aged , Nucleic Acid Denaturation , Nucleic Acid Hybridization , Protein Folding , Sequence Analysis, DNA , Structure-Activity Relationship
3.
Presence of the hemochromatosis S65C mutation leads to failure of amplification in a multiplex C282Y/H63D PCR.
Koeken, Ankie; de Baar, Ellen; Schrauwen, Lianne; Cobbaert, Christa.
Clin Chem ; 53(9): 1715, 2007 Sep.
Article in English | MEDLINE | ID: mdl-17712010

Subject(s)
Hemochromatosis/genetics , Histocompatibility Antigens Class I/genetics , Membrane Proteins/genetics , Hemochromatosis Protein , Histocompatibility Antigens Class I/blood , Humans , Membrane Proteins/blood , Molecular Diagnostic Techniques/methods , Mutagenesis, Site-Directed , Mutation , Polymerase Chain Reaction/methods
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