ANALYSIS OF THE ASSOCIATION OF POLYMORPHIC LOCUS RS1138272 OF GSTР1 GENE WITH BRONCHIAL ASTHMA AND PECULIARITIES OF ITS COURSE

Aim. To study the association of polymorphic locus rs1138272 of GSTP1 gene with the risk of bronchial asthma and peculiarities of its course.Material and Methods.136 DNA samples of patients with bronchial asthma of varying severity and 147 healthy persons DNA sample were used for genotyping by polymerase chain reaction and restriction fragment length polymorphism.Results. We found the association of allele Val of polymorphic locus rs1138272 of GSTP1 gene with the severity of bronchial asthma and violation of external respiratory function, which is a prognostically unfavorable sign for the course of the disease. No significant skewing in the distribution of alleles and genotypes was seen between the patients and controls.Conclusion. In this study we revealed the association of polymorphic locus rs1138272 of GSTP1 gene with an increased risk of severe bronchial asthma

Targeted next-generation sequencing of 21 candidate genes in hereditary ovarian cancer patients from the Republic of Bashkortostan

Abstract About 5–10% of all ovarian cancer cases show familial clustering, and some 15–25% of familial ovarian cancer cases are mediated by high-penetrance mutations in the BRCA1 and BRCA2 genes. Only few other genes have been identified for familial ovarian cancer. We conducted targeted next-generation sequencing of the protein coding region of 21 candidate genes, including UTR regions, in genomic DNA samples of 48 patients with familial ovarian cancer from the Republic of Bashkortostan. We identified deleterious variants in BRCA1, BRCA2, CHEK2, MSH6 and NBN in a total of 16 patients (33%). The NBN truncating variant, p.W143X, had not previously been reported. Seven patients (15%) were carriers of the c.5266dupC variant in BRCA1, supporting a Russian origin of this founder allele. An additional 15 variants of uncertain clinical significance were observed. We conclude that our gene panel explains about one-third of familial ovarian cancer risk in the Republic of Bashkortostan