Spectrum and Frequency of Nk Cell Receptor Genes Among Cystic Fibrosis Patients

Abstract

Aim – to establish and analyze the spectrum of KIR genes in people with a confirmed diagnosis of Cystic fibrosis (CF), homozygote of F508del mutation of the СFTR gene for understanding the genetic predisposition of congenital immunity key part functioning during CF. Materials and Methods. Examined 48 people with a confirmed diagnosis of CF, homozygotes of the F508del mutation of the CFTR gene, and 104 practically healthy people without the F508del mutation of the CFTR gene from the control group. The following molecular genetic methods were used: DNA extraction from peripheral blood cells, KIR genotyping by PCR-SSP for the presence or absence of the 14 KIR genes (KIR2DL1, 2DL2, 2DL3, 2DL4, 2DL5, 2DS1, 2DS2, 2DS3, 2DS4, 2DS5, 3DL1, 3DL2, 3DL3, 3DS1). Results – molecular genetic studies of KIR-genes repertoire in the group of cystic fibrosis patients showed a decrease in the frequency of genes, responsible for activating NK cells receptors. Of the five examined NK cell activation genes, one gene was completely absent, namely 2DS4, and another (2DS1) was detected in only 3 of 48 patients examined, which was 6.25 %, and this figure is significantly lower in comparison with the control group (c2=4.801, p<0.05). Regarding the genes of NK-cell inhibitory receptors, all investigated genes were detected in the study group (8 in general). By detection frequency, they mostly correspond to the control group, with the exception of the 2DL3 gene, found in patients with CF with a significantly lower frequency (c2=11.97, p<0.005). Conclusion – for the first time in the group of patients with CF, a study was performed on the frequency and spectrum of KIR-genes, responsible for NK cell receptors. Reducing the frequency of activation NK cell receptor genes in patients with CF can lead to a weakening of congenital immunity and the severity of infectious processes during CF