Cost-effective procedures for genotyping of human FCN2 gene single nucleotide polymorphisms
| Autor: | Maciej Cedzynski, Anna St. Swierzko, Agnieszka Szala |
|---|---|
| Rok vydání: | 2013 |
| Předmět: |
Genotyping
Genotype Cost-Benefit Analysis Immunology Single-nucleotide polymorphism Biology Polymorphism Single Nucleotide law.invention Exon law Lectins Genetics FCN2 Humans SNP Genetic Predisposition to Disease Genetic Testing Promoter Regions Genetic Gene Alleles Polymerase chain reaction Original Paper Promoter Molecular biology Single nucleotide polymorphism SNP genotyping L-ficolin (ficolin-2) Poland |
| Zdroj: | Immunogenetics |
| ISSN: | 1432-1211 0093-7711 |
| DOI: | 10.1007/s00251-013-0696-7 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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