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

ABSTRACT: 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.

SUBMITTER: Szala A

PROVIDER: S-EPMC3651822 | biostudies-literature | 2013 Jun

REPOSITORIES: biostudies-literature

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

Szala Agnieszka A St Swierzko Anna A Cedzynski Maciej M

Immunogenetics 20130323 6

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 ...[more]

PMID: 23525825

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