OncohematologyOncohematologyОнкогематология1818-83462413-4023Publishing House ABV Press20910.17650/1818-8346-2016-11-3-76-85RARE DISEASESРЕДКИЕ БОЛЕЗНИGenetic diagnosis of Fanconi anemia. Literature reviewГенетическая диагностика анемии Фанкони. Обзор литературыPanferovaA. V.ПанфероваА. В.
Russian Federation
a.panfyorova@gmail.comTimofeevaN. M.ТимофееваН. М.
Russian Federation
Ol’shanskayaYu. V.ОльшанскаяЮ. В.
Russian Federation
Federal Research Institute of Pediatric Hematology, Oncology and Immunology named after Dmitiry RogachevФГБУ «Федеральный научно-клинический центр детской гематологии, онкологии и иммунологии им. Дмитрия Рогачева» Минздрава России1010201611376851010201610102016https://oncohematology.abvpress.ru/ongm/article/view/209

The literature review provides information on genetic diagnosis of Fanconi anemia: currently used methods of genetic analysis, spectrum and frequency of mutations, including in different populations, and order of molecular genetic methods are described. Problems of genetic diagnosis of Fanconi anemia in the world and in particular in the Russian Federation are also presented.

В обзоре литературы представлена информация по генетической диагностике анемии Фанкони: описаны применяемые в настоящее время методы генетического анализа, приведены спектр мутаций и частота их распространения, в том числе относительно различных популяций, описаны схема и порядок проведения молекулярно-генетических методик исследования. В статье обозначены проблемы генетической диагностики анемии Фанкони в мире и в частности в Российской Федерации.

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