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@article{1767999,
author = {Mrázková, Jana and Sistek, Petr and Lochman, Jan and Izakovičová Hollá, Lydie and Daněk, Zdeněk and Bořilová Linhartová, Petra},
article_location = {Basel},
article_number = {2},
doi = {http://dx.doi.org/10.3390/diagnostics11020301},
keywords = {mannose-binding lectin; mannose-binding lectin gene (MBL2); SNaPshot assay; single nucleotide polymorphism; genotyping; Haplogenotype Calculator; haplogenotypes},
language = {eng},
issn = {2075-4418},
journal = {Diagnostics},
title = {A SNaPshot Assay for Determination of the Mannose-Binding Lectin Gene Variants and an Algorithm for Calculation of Haplogenotype Combinations},
url = {https://www.mdpi.com/2075-4418/11/2/301},
volume = {11},
year = {2021}
}
TY - JOUR
ID - 1767999
AU - Mrázková, Jana - Sistek, Petr - Lochman, Jan - Izakovičová Hollá, Lydie - Daněk, Zdeněk - Bořilová Linhartová, Petra
PY - 2021
TI - A SNaPshot Assay for Determination of the Mannose-Binding Lectin Gene Variants and an Algorithm for Calculation of Haplogenotype Combinations
JF - Diagnostics
VL - 11
IS - 2
SP - 1-17
EP - 1-17
PB - MDPI
SN - 20754418
KW - mannose-binding lectin
KW - mannose-binding lectin gene (MBL2)
KW - SNaPshot assay
KW - single nucleotide polymorphism
KW - genotyping
KW - Haplogenotype Calculator
KW - haplogenotypes
UR - https://www.mdpi.com/2075-4418/11/2/301
N2 - 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.
ER -
MRÁZKOVÁ, Jana, Petr SISTEK, Jan LOCHMAN, Lydie IZAKOVIČOVÁ HOLLÁ, Zdeněk DANĚK and Petra BOŘILOVÁ LINHARTOVÁ. A SNaPshot Assay for Determination of the Mannose-Binding Lectin Gene Variants and an Algorithm for Calculation of Haplogenotype Combinations. \textit{Diagnostics}. Basel: MDPI, 2021, vol.~11, No~2, p.~1-17. ISSN~2075-4418. Available from: https://dx.doi.org/10.3390/diagnostics11020301.
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