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

J. Mrazkova, P. Sistek, J. Lochman, L. Izakovicova Holla, Z. Danek, P. Borilova Linhartova

. 2021 ; 11 (2) : . [pub] 20210213

Jazyk angličtina Země Švýcarsko

Typ dokumentu časopisecké články

Perzistentní odkaz   https://www.medvik.cz/link/bmc21010472

Grantová podpora
NU-20-08-00205 Ministerstvo Zdravotnictví Ceské Republiky
NU20-03-00126 Ministerstvo Zdravotnictví Ceské Republiky
NV17-30439A Ministerstvo Zdravotnictví Ceské Republiky
MUNI/A/1428/2019 Lékařská fakulta, Masarykova univerzita
ROZV/28/LF4/20 Lékařská fakulta, Masarykova univerzita
NV17-30439A MZ0 CEP - Centrální evidence projektů

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.

Citace poskytuje Crossref.org

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$a Mrazkova, Jana $u Department of Pathophysiology, Faculty of Medicine, Masaryk University, Kamenice 753/5, 625 00 Brno, Czech Republic ; Department of Stomatology, Institution Shared with St. Anne's Faculty Hospital and Faculty of Medicine, Masaryk University, Pekarska 664/53, 656 91 Brno, Czech Republic
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$a 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.
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