ymjЯкутский медицинский журналYakut Medical Journal1813-19052312-1017ЯНЦ КМПymj-2398Research ArticleЭПИДЕМИОЛОГИЯ НАСЛЕДСТВЕННЫХ БОЛЕЗНЕЙ И ВРОЖДЕННЫХ ПОРОКОВ РАЗВИТИЯEPIDEMIOLOGY OF HEREDITARY DISEASES AND CONGENITAL DEVELOPMENTAL ANOMALIESКлинико-эпидемиологическое исследование нейрофиброматоза I типа в Республике БашкортостанClinical-epidemiological research of neurofibromatosis type I in Republic BashkortostanМустафинР. Н.MustafinR. N.

Мустафин Рустам Наилевич – аспирант

ruji79@mail.ruБермишеваМ. А.BermishevaM. A.

Бермишева Марина Алексеевна – к.б.н., с.н.с.

Marina_berm@mail.ruХуснутдиноваЭ. К.KhusnutdinovaE. K.

Хуснутдинова Эльза Камилевна – д.б.н., проф., зав. отделом геномики

ekkh@anrb.ruИнститут биохимии и генетики Уфимского научного центра РАНRussian FederationИнститут биохимии и генетики УНЦ РАНRussian Federation200926102025022325Copyright © Мустафин Р.Н., Бермишева М.А., Хуснутдинова Э.К., 20252025Мустафин Р.Н., Бермишева М.А., Хуснутдинова Э.К.Mustafin R.N., Bermisheva M.A., Khusnutdinova E.K.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://ymj.elpub.ru/jour/article/view/2398

Изучена распространенность нейрофиброматоза 1 типа на территории Республики Башкортостан (РБ), в среднем составляющая 4,7 на 100 тыс.чел. Заболевание встречается во всех этнических группах с неравномерным распределением в различных районах РБ, незначительно преобладает среди женщин в соотношении 1,2:1. Отмечается значительная клиническая вариабельность. В 55,0% заболевание представлено единственным случаем в семье.

The aim of the present investigation is to study Neurofibromatosis type 1 prevalence in Republic of Bashkortostan. The disease is distributed irregularly through various districts of the Republic, on average, NF1 occurrence in Bashkortostan is 4,7 cases per 100 000 inhabitants. The disease was revealed in all ethnic groups of the studied population. In women the disease was slightly more frequent than in men (1,2:1). THis study shows the variability of the NF1 phenotype. In 55,0% of NF1 cases only one person in the family tends to suffer from the disease.

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The authors declare that there are no conflicts of interest present.