Cost-effective procedures for genotyping of human FCN2 gene single nucleotide polymorphisms

Cost-effective procedures for genotyping of human FCN2 gene single nucleotide polymorphisms

L-ficolin (ficolin-2) is a complement-activating pattern-recognition lectin taking part in the innate immune response. Both its serum concentration and sugar binding capacity are influenced by single nucleotide polymorphisms (SNP) of the corresponding FCN2 gene. Cost-effective and simple procedures,...

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Main Authors: Szala, Agnieszka, St. Swierzko, Anna, Cedzynski, Maciej
Format: Online
Language:English
Published: Springer-Verlag 2013
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3651822/
id pubmed-3651822
recordtype oai_dc
spelling pubmed-36518222013-05-13 Cost-effective procedures for genotyping of human FCN2 gene single nucleotide polymorphisms Szala, Agnieszka St. Swierzko, Anna Cedzynski, Maciej Original Paper L-ficolin (ficolin-2) is a complement-activating pattern-recognition lectin taking part in the innate immune response. Both its serum concentration and sugar binding capacity are influenced by single nucleotide polymorphisms (SNP) of the corresponding FCN2 gene. Cost-effective and simple procedures, based on polymerase chain reaction (PCR) or PCR-restriction fragment length polymorphism for an investigation of four FCN2 SNPs are proposed: −64 A > C (rs7865453), −4 A > G (rs17514136; both located in the promoter region), +6359 C > T (rs17549193), +6424 G > T (rs7851696; both in exon 8). Variant alleles of −64 and +6424 (in strong linkage disequlibrium) are known to be associated with low L-ficolin level or activity. In contrast, variant alleles at positions −4 and +6359 (also in strong linkage disequlibrium) correspond to higher values. Since several L-ficolin clinical associations have been reported, FCN2 genotyping seems to be a valuable tool for disease association studies. Springer-Verlag 2013-03-23 2013-06 /pmc/articles/PMC3651822/ /pubmed/23525825 http://dx.doi.org/10.1007/s00251-013-0696-7 Text en © The Author(s) 2013 Open Access This article is distributed under the terms of the Creative Commons Attribution License which permits any use, distribution, and reproduction in any medium, provided the original author(s) and the source are credited.
repository_type Open Access Journal
institution_category Foreign Institution
institution US National Center for Biotechnology Information
building NCBI PubMed
collection Online Access
language English
format Online
author Szala, Agnieszka
St. Swierzko, Anna
Cedzynski, Maciej
spellingShingle Szala, Agnieszka
St. Swierzko, Anna
Cedzynski, Maciej
Cost-effective procedures for genotyping of human FCN2 gene single nucleotide polymorphisms
author_facet Szala, Agnieszka
St. Swierzko, Anna
Cedzynski, Maciej
author_sort Szala, Agnieszka
title Cost-effective procedures for genotyping of human FCN2 gene single nucleotide polymorphisms
title_short Cost-effective procedures for genotyping of human FCN2 gene single nucleotide polymorphisms
title_full Cost-effective procedures for genotyping of human FCN2 gene single nucleotide polymorphisms
title_fullStr Cost-effective procedures for genotyping of human FCN2 gene single nucleotide polymorphisms
title_full_unstemmed Cost-effective procedures for genotyping of human FCN2 gene single nucleotide polymorphisms
title_sort cost-effective procedures for genotyping of human fcn2 gene single nucleotide polymorphisms
description L-ficolin (ficolin-2) is a complement-activating pattern-recognition lectin taking part in the innate immune response. Both its serum concentration and sugar binding capacity are influenced by single nucleotide polymorphisms (SNP) of the corresponding FCN2 gene. Cost-effective and simple procedures, based on polymerase chain reaction (PCR) or PCR-restriction fragment length polymorphism for an investigation of four FCN2 SNPs are proposed: −64 A > C (rs7865453), −4 A > G (rs17514136; both located in the promoter region), +6359 C > T (rs17549193), +6424 G > T (rs7851696; both in exon 8). Variant alleles of −64 and +6424 (in strong linkage disequlibrium) are known to be associated with low L-ficolin level or activity. In contrast, variant alleles at positions −4 and +6359 (also in strong linkage disequlibrium) correspond to higher values. Since several L-ficolin clinical associations have been reported, FCN2 genotyping seems to be a valuable tool for disease association studies.
publisher Springer-Verlag
publishDate 2013
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3651822/
_version_ 1611977163418894336

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