Analysis mutations CYP1B1 gene in patients of hereditary forms of glaucoma

Relevance. Glaucoma is a group of chronic eye diseases characterized by a violation of the outflow of the intraocular fluid, which leads to an increase in the level of intraocular pressure beyond tolerant, resulting in the development of glaucomatous optic neuropathy followed by atrophy of the optic nerve and characteristic changes in the visual fields. In the world among the causes of vision loss, glaucoma is second only to cataract. According to statistics, 75-90 million people worldwide have glaucoma, and by 2030 the number of patients is expected to double. Glaucoma is one of the most urgent and important problems in ophthalmology, which is of great medical and social importance due to the high prevalence and severity of disease outcomes. Purpose. The purpose of this work was to study the frequency and spectrum of mutations in the cytochrome P450 gene ( CYP1B1 ) in patients with primary congenital and primary open-angle glaucoma from the Republic of Bashkortostan. Materials and methods. The study included 54 DNA samples (14 DNA patients and 40 members of their families) from 14 unrelated families, diagnosed with primary congenital glaucoma, and 215 DNA samples of patients unrelated to each other, diagnosed with primary open angle glaucoma and 250 healthy DNA samples not related individuals. Genomic DNA was collected from the peripheral blood of all participants. The coding sequence of the CYP1B1 gene was amplified by PCR from the genomic DNA, followed by SSCP analysis followed by DNA re-sequencing of patients with altered conformational mobility. The functional significance of the detected changes in the nucleotide sequence of the CYP1B1 gene was assessed using the PolyPhen, SIFT, PhD-SNP, SNAP, Meta-SNP, PANTHER, SNPs & GO, MutationAssessor, Human Splicing Finder programs. Results. In patients with clinical diagnosis, primary open-angle glaucoma identified 4 single nucleotide variants, three of which have not been previously described (c.108C> A, c.109C> G, c.113G> A), and one polymorphic version (rs10012 (c.142C>G)).

глаукома, ген цитохрома Р450, ген MYOC, анализ in silico, новые мутации, glaucoma, a cytochrome P450 gene, MYOC gene, analysis in silico, new mutations

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