A SNaPshot Assay for Determination of the Mannose-Binding Lectin Gene Variants and an Algorithm for Calculation of Haplogenotype Combinations
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00159816%3A_____%2F21%3A00074420" target="_blank" >RIV/00159816:_____/21:00074420 - isvavai.cz</a>
Alternative codes found
RIV/65269705:_____/21:00074420 RIV/00216224:14110/21:00120096
Result on the web
<a href="https://www.mdpi.com/2075-4418/11/2/301" target="_blank" >https://www.mdpi.com/2075-4418/11/2/301</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.3390/diagnostics11020301" target="_blank" >10.3390/diagnostics11020301</a>
Alternative languages
Result language
angličtina
Original language name
A SNaPshot Assay for Determination of the Mannose-Binding Lectin Gene Variants and an Algorithm for Calculation of Haplogenotype Combinations
Original language description
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.
Czech name
—
Czech description
—
Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
—
OECD FORD branch
30200 - Clinical medicine
Result continuities
Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2021
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Diagnostics
ISSN
2075-4418
e-ISSN
—
Volume of the periodical
11
Issue of the periodical within the volume
2
Country of publishing house
CH - SWITZERLAND
Number of pages
17
Pages from-to
301
UT code for WoS article
000622433400001
EID of the result in the Scopus database
2-s2.0-85108890319