Allelic polymorphism of F2, F5 and MTHFR genes in population of Ukraine

Analysis of F2, F5 and MTHFR genes SNPs allelic variants in population of Ukraine. Polymorphic variants were analyzed in 172 unrelated individuals using PCR followed by RFLP analysis.Проанализировано распределение полиморфных вариантов генов по SNP F2 G20210A, F5 G1691A и MTHFR C677T среди населения Украины. Аллельные варианты SNP анализировали среди 172 неродственных индивидуумов методами ПЦР- и ПДРФ-анализа.Проаналізували розподіл алельних варіантів генів за SNP F2 G20210A, F5 G1691A та MTHFR C677T серед населення України. Алельні варіанти SNP аналізували серед 172 неспоріднених індивідів методом ПЛР- та ПДРФ-аналізу

Study of the possible role of polymorphisms of the detoxication and coagulation system genes in pathogenesis of pregnancy loss

Aim. To study association of polymorphisms of the genes of the first CYP1A1 (T6235C) and second GSTM1 («0»), GSTT1 («0»), GSTP1 (A313G) phases of detoxication system as well as polymorphic variants of the genes of proteins of coagulation system F2 (G20210A), F5 (G1691A), and folate metabolism system MTHFR (C677T) with pathogenesis of pregnancy loss. Methods. Polymorphic variants were analyzed using PCR followed by RFLP analysis in 86 healthy individuals and in 109 patients with different types of pregnancy loss. Results. Unfavorable polymorphic variants GSTP1 (313G) and CYP1A1 (6235C) were observed more frequently in the patients with pregnancy loss comparing to the control group. Conclusions. We assume that the 313G polymorphic variant of GSTP1 gene may be considered as a factor of hereditary susceptibility to pregnancy loss

Study on possible role of CYP1A1, GSTT1, GSTM1, GSTP1, NAT2 and ADRB2 genes polymorphism in bronchial asthma development in children

Aim. To study the association of polymorphisms of the enzymes genes CYP1A1 (T6235C), first phase, and NAT2 (C481T, G590A, G857A), GSTM1 («0»), GSTT1 («0») and GSTP1 (A313G), second phase of the detoxication system, as well as the ADRB2 (C79G) gene variants with the development of bronchial asthma in children. Methods. Polymorphic variants were analyzed using PCR followed by RFLP analysis in 86 healthy individuals and in 114 patients with clinical diagnosis of bronchial asthma. Results. The frequency of gene polymorphic variants of the enzymes of first and second phases of detoxification system as well as the ADRB2 gene was established in the children with bronchial asthma and healthy individuals. Conclusions. Ðolymorphic variants of the genes NAT2 (481T), GSTP1 (313G) and ADRB2 (79G) and their combinations in genotype were observed more frequently in the patients with bronchial asthma comparing to the control group, which indicates their involvement in the pathogenesis of asthma in children

Noncoding deletions reveal a gene that is critical for intestinal function

Large-scale genome sequencing is poised to provide a substantial increase in the rate of discovery of disease-associated mutations, but the functional interpretation of such mutations remains challenging. Here we show that deletions of a sequence on human chromosome 16 that we term the intestine-critical region (ICR) cause intractable congenital diarrhoea in infants1,2. Reporter assays in transgenic mice show that the ICR contains a regulatory sequence that activates transcription during the development of the gastrointestinal system. Targeted deletion of the ICR in mice caused symptoms that recapitulated the human condition. Transcriptome analysis revealed that an unannotated open reading frame (Percc1) flanks the regulatory sequence, and the expression of this gene was lost in the developing gut of mice that lacked the ICR. Percc1-knockout mice displayed phenotypes similar to those observed upon ICR deletion in mice and patients, whereas an ICR-driven Percc1 transgene was sufficient to rescue the phenotypes found in mice that lacked the ICR. Together, our results identify a gene that is critical for intestinal function and underscore the need for targeted in vivo studies to interpret the growing number of clinical genetic findings that do not affect known protein-coding genes