title: [Mutations and polymorphisms in the genes for myocilin and optineur in as the risk factors of primary open-angle glaucoma].
abstract: A collection of DNA samples obtained from primary open-angle glaucoma (POAG) patients from St. Petersburg was analyzed for single-strand conformation polymorphism (SSCP) to reveal sequence variants in exon 3 of the myocilin gene (MYOC/TIGR) and in exons 4 and 5 of the optineurin gene (OPTN), where most of the mutations revealed worldwide are located. The Q368X mutation (c. 1102 C --> T) in exon 3 of MYOC/TIGR was detected in 1.2% (2/170) of the POAG patients from St. Petersburg, i.e., with the frequency close to that observed in other world populations. Three known polymorphisms in exon 3 of MYOC/TIGR, Y347Y (c. 1041 T --> C) (12.4%), T325T (c. 975 G --> A) (0.6%), and K398R (c. 1193 A --> G) (0.6%) were also detected. No statistically significant differences in frequencies of these polymorphisms were revealed between the POAG patient and control groups. The L41L polymorphism (c. 433 G --> A) in exon 4 of OPTN was detected in 2.9% of probands and in 1% of controls. The frequency of heterozygotes for the M98K polymorphism (c. 603 T --> A) in the OPTN exon 5 was statistically significantly higher (P = 0.036; Fisher's exact test) among the POAG patients (6.5%) than among the controls (1%). In the sample examined the E50K mutation, typical of the patients with pseudonormal intraocular pressure glaucoma, was not found.
authors.forename: V V
authors.initials: VV
authors.lastname: Rakhmanov
authors.forename: N Ia
authors.initials: NIa
authors.lastname: Nikitina
authors.forename: F M
authors.initials: FM
authors.lastname: Zakharova
authors.forename: Iu S
authors.initials: IuS
authors.lastname: Astakhov
authors.forename: M D
authors.initials: MD
authors.lastname: Kvasova
authors.forename: V B
authors.initials: VB
authors.lastname: Vasil'ev
authors.forename: V I
authors.initials: VI
authors.lastname: Golubkov
authors.forename: M Iu
authors.initials: MIu
authors.lastname: Mandel'shtam
mesh_terms: D019943:Amino Acid Substitution; D016022:Case-Control Studies; D018797:Cell Cycle Proteins; D003598:Cytoskeletal Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005902:Glaucoma, Open-Angle / Q000235:genetics*; D006023:Glycoproteins / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins; D010375:Pedigree; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D012307:Risk Factors; D035582:Transcription Factor TFIIIA / Q000235:genetics*; D000099179:Myocilin
chemical_list: D018797:Cell Cycle Proteins; D003598:Cytoskeletal Proteins; D005136:Eye Proteins; D006023:Glycoproteins; D026901:Membrane Transport Proteins; D035582:Transcription Factor TFIIIA; D000099179:Myocilin; C409460:OPTN protein, human