Microarray-based detection of mannose-binding lectin 2 (MBL2) polymorphisms in a routine clinical setting

Georg Mitterer, Olaf Bodamer, Christian Harwanegg, Wolfgang Maurer, Manfred W. Mueller, Wolfgang M. Schmidt

Research output: Contribution to journalArticlepeer-review

4 Scopus citations


The assessment of allelic variants in the human mannose-binding lectin 2 (MBL2) gene is of great clinical importance in newborns or immune-suppressed patients at high risk for a variety of infections. Here, we present a study on the genotyping accuracy of a DNA microarray-based on-chip PCR method suited for the detection of five different polymorphisms in the MBL2 gene. We tested 153 genomic DNA samples, prepared from archival blood spots on Guthrie cards, for the presence of allelic variants in the human MBL2 gene by the on-chip PCR method and compared the obtained results of three variants to standard DNA capillary sequencing. The genotyping power of the described assay was readily comparable to DNA sequencing (453/459 correct genotype calls in 153 DNA samples; 98.7% accuracy), mainly due to intrinsic technical benefits of microarrays such as high number of test replicates and automated data analysis. This study demonstrates, for the first time, the accuracy and reliability of a microarray-based on-chip PCR genotyping assay for measuring allelic variants in a routine clinical setting.

Original languageEnglish (US)
Pages (from-to)6-13
Number of pages8
JournalGenetic Testing
Issue number1
StatePublished - Mar 1 2005

ASJC Scopus subject areas

  • Genetics(clinical)


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