Rapid Detection of the Three Celiac Disease Risk Genotypes HLA-DQ2.2, HLA-DQ2.5, and HLA-DQ8 by Multiplex Ligation-Dependent Probe Amplification

被引：2

作者：

Vijzelaar, Raymon ^{[1
]}

van der Zwan, Ellen ^{[2
]}

van Gammeren, Adriaan ^{[3
]}

Yilmaz, Rizkat ^{[1
]}

Verheul, Alice ^{[2
]}

van Hoogstraten, Ingrid ^{[4
]}

de Baar, Ellen ^{[3
]}

Schrauwen, Lianne ^{[3
]}

Kortlandt, Wouter ^{[2
]}

机构：

[1] MRC Holland BV, Amsterdam, Netherlands

[2] Diakonessen Hosp, Dept Clin Chem Hematol & Immunol, Bosboomstr 1, NL-3582 KE Utrecht, Netherlands

[3] Amphia Hosp, Dept Clin Chem & Hematol, Breda, Netherlands

[4] Vrije Univ Amsterdam, Med Ctr, Dept Pathol, Amsterdam, Netherlands

来源：

GENETIC TESTING AND MOLECULAR BIOMARKERS | 2016年 / 20卷 / 03期

关键词：

HLA-DQ; GASTROENTEROLOGY; GUIDELINES; DIAGNOSIS; SOCIETY;

D O I：

10.1089/gtmb.2015.0233

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

引用

页码：158 / 161

页数：4

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