Z.S. ISLAMOV, M.S. GILDIEVA, R.Kh. USMANOV

Republican Oncology Scientific Center of Ministry of Healthcare of Uzbekistan Republic, 383 Faraby Str., Tashkent, Republic of Uzbekistan, 100174 

Islamov Z.S. — Cand. Med. Sc., Head of the Department of Onco-Ophthalmology, tel. (+99871) 246-98-86, e-mail: dr_islamov@yahoo.com

Gildieva M.S. — D. Med. Sc., Head of the Laboratory of Tumors Genetics, tel. (+99871) 246-98-74, e-mail: galice@mail.ru

Usmanov R.Kh. — Junior Researcher of the Department of Onco-Ophthalmology, tel. (+99871) 246-98-86, e-mail: r_usmanov77@mail.ru

Retinoblastoma (Rb) is a rare intraocular tumour developing from immature retina cells. It is caused by a mutation oncosupressor gene-Rbl, localised in the proximal sector of a long arm of chromosome 13. Cytogenetic researches of blood in patients with retinoblastoma have revealed the specific chromosomal aberrations which level exceeds several times the indicators of healthy people (11.2% in patients, 1.2% in healthy people). In healthy relatives of patients, the level of chromosomal aberrations was 4.6%. The frequency of occurrence of specific chromosomes aberrations (13q-) in Rb patients was 16.7% (5/30), in their sibs — 5.1%. The analysis of chromosomal infringements in lymphocytes at an earlier stage of tumour development allows to define the risk of its development, for example in healthy sibs of patients with retinoblastoma.

Key words: retinoblastoma, cytogenetics, chromosomal aberration.

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