Publications by authors named "Vladimir S Kaimonov"
Article Synopsis
- Population allele frequency is essential for understanding genetic variants in medicine, and large databases like gnomAD serve as references.
- Variances in rare allele frequencies between populations suggest that local data can be more informative than global averages; many regions, including Russia, lack comprehensive genetic studies.
- The RUSeq project created a large genetic variant reference set from 7,452 exome samples in Moscow and St. Petersburg, revealing significant genetic diversity and identifying notable pathogenic variants specific to Russia.
Article Synopsis
- - The study focused on dysferlinopathy in an isolated Avar population in Dagestan, examining the prevalence of a specific pathological DYSF gene variant linked to muscular dystrophy, using genetic screenings of 746 individuals.
- - Findings revealed a high allele frequency of 14%, with a notable 3.8% of individuals homozygous for the variant, leading to two phenotypes: limb-girdle muscular dystrophy and Miyoshi muscular dystrophy.
- - The research concluded that inbreeding contributed to the population's significant burden of dysferlinopathy, indicated by a low number of heterozygotes and a specific fixation index value.
Allele frequencies of single nucleotide polymorphisms (SNPs) are variable among different populations; therefore the study of SNPs in ethnic groups is important for establishing the clinical significance of the screening of these polymorphisms. The main goal of the research is to study the polymorphisms of CYP2C9, CYP2C19, VKORC1, and SLCO1B1 in Yakuts. Genomic DNA from 229 Yakut subjects were analyzed by real-time polymerase chain reaction (PCR) (SLCO1B1 +521T > C, VKORC1 -1639G>A, CYP2C19 +681G>A, +636G>A, CYP2C9 +430С>T, +1075A>C).
View Article and Find Full Text PDFIntroduction: Tyrosinemia type 1 (HT1) (OM IM 276700) is an inborn error of tyrosine catabolism caused be fumarylacetoacetate hedralase deficiency (FAH). In tyrosinemia type I, dietary therapy and nitisinone (Orfandin®), liver transplantation are effective .
Aim: We present here the first report on identification of FAH mutation in HT1 Yakut patient from Russia with a novel one.