[Mutations and polymorphisms in the genes for myocilin and optineur in as the risk factors of primary open-angle glaucoma].

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.

[Immunological studies on cataracts under conditions of exposure to low-dose radiation]. / Immunologicheskie issledovaniia pri kataraktakh v usloviiakh deistviia malykh doz ioniziruiushchego izlucheniia.

Immunopathological changes were studied in cataract patients chronically exposed to low-dose ionizing radiation occupationally or as a result of living in districts polluted with radionuclides after the Chernobyl accident. No cellular autoimmune shifts were detected in the examinees; humoral autoimmune changes in respect of different ocular antigens were revealed. Low-dose ionizing radiation was conducive to the formation of thermostable complement-fixing antibodies to lens tissues. One of the causes of the production of such antibodies were disorders in the helper-suppressor relationships of T-lymphocytes. The studies confirm the hypothesis on the possibility of cataract development as a result of low-dose exposure.