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

J 2021

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

MRÁZKOVÁ, Jana, Petr SISTEK, Jan LOCHMAN, Lydie IZAKOVIČOVÁ HOLLÁ, Zdeněk DANĚK et. al.

Základní údaje

Originální název

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

Autoři

MRÁZKOVÁ, Jana (203 Česká republika, domácí), Petr SISTEK (203 Česká republika), Jan LOCHMAN (203 Česká republika, domácí), Lydie IZAKOVIČOVÁ HOLLÁ (203 Česká republika, domácí), Zdeněk DANĚK (203 Česká republika, domácí) a Petra BOŘILOVÁ LINHARTOVÁ (203 Česká republika, domácí)

Vydání

Diagnostics, Basel, MDPI, 2021, 2075-4418

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

10606 Microbiology

Stát vydavatele

Švýcarsko

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 3.992

Kód RIV

RIV/00216224:14110/21:00120096

Organizační jednotka

Lékařská fakulta

DOI

http://dx.doi.org/10.3390/diagnostics11020301

UT WoS

000622433400001

Klíčová slova anglicky

mannose-binding lectin; mannose-binding lectin gene (MBL2); SNaPshot assay; single nucleotide polymorphism; genotyping; Haplogenotype Calculator; haplogenotypes

Štítky

14110130, 14110227, 14110323, 14110518, podil, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 1. 3. 2022 09:57, Mgr. Tereza Miškechová

Anotace

V originále

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.

Návaznosti

LM2015085, projekt VaV

Název: CERIT Scientific Cloud (Akronym: CERIT-SC)

Investor: Ministerstvo školství, mládeže a tělovýchovy ČR, CERIT Scientific Cloud

NU20-08-00205, projekt VaV

Název: Molekulární etiopatogeneze apikální periodontitidy a odontogenních cyst

Investor: Ministerstvo zdravotnictví ČR, Molekulární etiopatogeneze apikální periodontitidy a odontogenních cyst, Podprogram 1 - standardní

NV17-30439A, projekt VaV

Název: Moderní biotechnologické a behaviorální přístupy ve výzkumu zubního kazu a strategie jeho prevence

90042, velká výzkumná infrastruktura

Název: CESNET II

Citovat

MRÁZKOVÁ, Jana, Petr SISTEK, Jan LOCHMAN, Lydie IZAKOVIČOVÁ HOLLÁ, Zdeněk DANĚK a Petra BOŘILOVÁ LINHARTOVÁ. A SNaPshot Assay for Determination of the Mannose-Binding Lectin Gene Variants and an Algorithm for Calculation of Haplogenotype Combinations. Diagnostics. Basel: MDPI, 2021, roč. 11, č. 2, s. 1-17. ISSN 2075-4418. Dostupné z: https://dx.doi.org/10.3390/diagnostics11020301.

@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 a 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, roč.~11, č.~2, s.~1-17. ISSN~2075-4418. Dostupné z: https://dx.doi.org/10.3390/diagnostics11020301.

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