The aim of the present study was to determine the frequencies of polymorphisms of nuclear factor-kappa (NF-ĸB1) and NF-ĸBIA genes, which have shown to be related with several inflammatory diseases and cancer pathogenesis, using Polymerase Chain Reaction-Restriction Fragment Lentght polymorphism (PCR-RFLP) assay in the population of Aydın province.
For this aim, total genomic DNAs were isolated from periferal blood samples taken from a total of 565 healty volunteers living in Aydin Province. Genomic regions in questions were amplified by PCR technique and the polymorphisms in these regions were detected by RFLP assay. Results of the analyses showed that the frequency of the NF-ĸB1 -94ins/delATTG del/del, del/ins and ins/ins genotypes were 10.3%, 49.1% and 40.6%, respectively. On the other hand, the genotype frequencies of the NF-ĸBIA 3'UTR A→G genotypes were as follows: genotype A/A: 19.2%, genotype A/G: 42.3% and genotype G/G: 38.5%. Distribution of genotype frequencies were tested by Hardy Weinberg test and results showed that while NF-ĸB1 gene was in Hardy-Weinberg equilibrium (χ2=3.402, p>0.05), NF-ĸBIA gene was not (χ2=8.293, p<0.05).
Bu çalışmanın amacı Aydın ili populasyonunda birçok enflamatuvar hastalık ve kanser patogenezi ile ilişkili olduğu bilinen Nükleer faktör-kappaB1 (NF-ĸB1) ve NF-ĸBIA genlerinin polimorfizminin Polimeraz Zincir Reaksiyonu-Restriksiyon Fragmanı Uzunluk Polimorfizmi (PCR-RFLP) yöntemi ile sıklıklarını saptamaktır.
Aydın ilinden 565 sağlıklı bireyin kan örneğinden izole edilen ilgili genom bölgeleri PCR ile spesifik olarak amplifiye edilmiş ve RFLP yöntemi ile polimorfizmler saptanmıştır. Çalışma grubunda, NF-ĸB1 -94ins/delATTG polimorfizmindeki genotip sıklıkları del/del: 55 (%10.3), del/ins: 252 (%49.1), ins/ins: 217 (%40.6); NF-ĸBIA 3'UTR A→G polimorfizmindeki genotip sıklıkları A/A: 106 (%19.2), A/G: 233 (%42.3), G/G: 212 (%38.5) olarak bulunmuştur. NF-ĸB1 polimorfizmi genotip dağılımı Hardy-Weinberg dengesinde iken (χ2=3.402, p>0.05), NF-ĸBIA polimorfizmi genotip dağılımı Hardy-Weinberg dengesinden sapan bir dağılım sergilemiştir (χ2=8.293, p<0.05).
