Digital PCR (dPCR) is a nucleic acid quantification method that is widely used in genetic analysis. One of the most significant advantages of dPCR over other methods is the possibility of absolute quantitative determination of genetic material without construction of calibration curves, which allows one to detect even single molecules of nucleic acids, and, hence, provides early diagnosis of diseases. One specific characteristic of dPCR is the detection of the analyzed biological object in each microreaction, followed by the presentation of the analysis results in a binary system, thereby giving the method its name.
View Article and Find Full Text PDFVavilovskii Zhurnal Genet Selektsii
July 2023
Asthma is a heterogeneous and often difficult to treat condition that results in a disproportionate cost to healthcare systems. Children with severe asthma are at increased risk for adverse outcomes including medication-related side effects, life-threatening exacerbations, and impaired quality of life. An important therapeutic focus is to achieve disease control, which is supposed to involve a personalized approach to treatment of asthma of any severity.
View Article and Find Full Text PDFHerewith, we provide novel original data about the prevalence of FCN3 rs532781899 and MASP2 rs72550870 variants among the newborns of aboriginal Siberian Arctic populations (Nenets and Dolgan-Nganasans) and Russians of East Siberia. This novel data has been analysed along with the genetic data about other proteins of the lectin pathway of the complement system (mannose-binding lectin and ficolin-2) obtained earlier. A total of 926 specimens of dried blood spots of the newborns were genotyped.
View Article and Find Full Text PDFThe frequency of occurrence of antigens of the Kell (Kpa, Kpb), Kidd, Duffy, MNS and Lutheran systems in donors of the Kirov region corresponds to the distribution of antigens characteristic of white Europeans. Antigens K (Kell system) and Lea (Lewis system) are detected in the population of the region much less frequently, antigen Leb (Lewis system) - more often than in the population of Europe. The presence of a registry of donors typed according to a wide range of red blood antigens is a prerequisite for the immunohematological safety of blood transfusions.
View Article and Find Full Text PDFLectins, being the main proteins of the lectin pathway activating the complement system, are encoded by polymorphic genes, wherein point mutations cause the protein conformation and expression to change, which turns out to have an effect on the functionality and ability to respond to the pathogen. In the current study, largescale data on the population genotype distribution of the genes for H-ficolin FCN3 rs28357092 and mannose-binding lectin-associated serine protease MASP2 rs72550870 among the indigenous peoples of the Russian Arctic regions (Nenets, Dolgans and Nganasans, a mixed population and Russians: a total sample was about 1000 newborns) have been obtained for the first time. Genotyping was carried out using RT-PCR.
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