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Article

A SNaPshot Assay for Determination of the Mannose-Binding Lectin Gene Variants and an Algorithm for Calculation of Haplogenotype Combinations

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Department of Pathophysiology, Faculty of Medicine, Masaryk University, Kamenice 753/5, 625 00 Brno, Czech Republic
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Department of Stomatology, Institution Shared with St. Anne’s Faculty Hospital and Faculty of Medicine, Masaryk University, Pekarska 664/53, 656 91 Brno, Czech Republic
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Secondary Technical School Brno, Purkynova, a Contributory Organization, Purkynova 97, 612 00 Brno, Czech Republic
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Department of Biochemistry, Faculty of Science, Masaryk University, Kotlarska 267/2, 611 37 Brno, Czech Republic
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Clinic of Maxillofacial Surgery, Institution Shared with the University Hospital Brno, Faculty of Medicine, Masaryk University, Jihlavska 20, 62500 Brno, Czech Republic
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Institute of Medical Genetics and Genomics, Faculty of Medicine, Masaryk University, Kamenice 753/5, 625 00 Brno, Czech Republic
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Department of Molecular Pharmacy, Faculty of Pharmacy, Masaryk University, Palackeho tr. 1946/1, 612 00 Brno, Czech Republic
*
Author to whom correspondence should be addressed.
Diagnostics 2021, 11(2), 301; https://doi.org/10.3390/diagnostics11020301
Received: 2 November 2020 / Revised: 7 February 2021 / Accepted: 11 February 2021 / Published: 13 February 2021
(This article belongs to the Section Pathology and Molecular Diagnostics)
Mannose-binding lectin (MBL) deficiency caused by the variability in the MBL2 gene is responsible for the susceptibility to and severity of various infectious and autoimmune diseases. A combination of six single nucleotide polymorphisms (SNPs) has a major impact on MBL levels in circulation. The aim of this study is to design and validate a sensitive and economical method for determining MBL2 haplogenotypes. The SNaPshot assay is designed and optimized to genotype six SNPs (rs1800451, rs1800450, rs5030737, rs7095891, rs7096206, rs11003125) and is validated by comparing results with Sanger sequencing. Additionally, an algorithm for online calculation of haplogenotype combinations from the determined genotypes is developed. Three hundred and twenty-eight DNA samples from healthy individuals from the Czech population are genotyped. Minor allele frequencies (MAFs) in the Czech population are in accordance with those present in the European population. The SNaPshot assay for MBL2 genotyping is a high-throughput, cost-effective technique that can be used in further genetic-association studies or in clinical practice. Moreover, a freely available online application for the calculation of haplogenotypes from SNPs is developed within the scope of this project. View Full-Text
Keywords: mannose-binding lectin; mannose-binding lectin gene (MBL2); SNaPshot assay; single nucleotide polymorphism; genotyping; Haplogenotype Calculator; haplogenotypes mannose-binding lectin; mannose-binding lectin gene (MBL2); SNaPshot assay; single nucleotide polymorphism; genotyping; Haplogenotype Calculator; haplogenotypes
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MDPI and ACS Style

Mrazkova, J.; Sistek, P.; Lochman, J.; Izakovicova Holla, L.; Danek, Z.; Borilova Linhartova, P. A SNaPshot Assay for Determination of the Mannose-Binding Lectin Gene Variants and an Algorithm for Calculation of Haplogenotype Combinations. Diagnostics 2021, 11, 301. https://doi.org/10.3390/diagnostics11020301

AMA Style

Mrazkova J, Sistek P, Lochman J, Izakovicova Holla L, Danek Z, Borilova Linhartova P. A SNaPshot Assay for Determination of the Mannose-Binding Lectin Gene Variants and an Algorithm for Calculation of Haplogenotype Combinations. Diagnostics. 2021; 11(2):301. https://doi.org/10.3390/diagnostics11020301

Chicago/Turabian Style

Mrazkova, Jana, Petr Sistek, Jan Lochman, Lydie Izakovicova Holla, Zdenek Danek, and Petra Borilova Linhartova. 2021. "A SNaPshot Assay for Determination of the Mannose-Binding Lectin Gene Variants and an Algorithm for Calculation of Haplogenotype Combinations" Diagnostics 11, no. 2: 301. https://doi.org/10.3390/diagnostics11020301

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