A special programme for the diagnosis and prevention of lysosomal storage diseases (LSD) was developed in the former USSR. All the patients from 814 families at risk were investigated using biochemical techniques. In total, 363 patients with mucopolysaccharidoses (MPS), mucolipidoses, glycoproteinoses, sphingolipidoses and other LSD were diagnosed; 55 families at risk sought prenatal diagnosis and 67 fetuses were investigated for MPS (types I, II, IIIA and IIIB, VI), Tay-Sachs disease, Sandhoff disease, GM1-gangliosidosis, metachromatic leukodystrophy, mannosidosis, Gaucher disease and multiple sulphatidosis; 17 affected fetuses were diagnosed and aborted. There was an ethnic distribution of different lysosomal storage diseases in the former USSR.
Генетическому разнообразию больных муковисцидозом (МВ) в России посвящены единичные работы на ограниченной выборке боль ных. Цель. Выявление особенностей генетического профиля больных МВ в России по данным Национального регистра (2014). Мате риалы и методы. Данные пациентов с МВ (n = 2 131) из 74 регионов России, включенные в Национальный регистр больных МВ (2014).
Представлен усовершенствованный алгоритм скрининга новорожденных на муковисцидоз (МВ) с включением, наряду с традиционной схемой обследования, обязательного этапа ДНК-тестирования у новорожденных с высоким риском. Внедрённый подход обеспечил эффективную раннюю и точную диагностику заболевания у новорожденных. Встречаемость МВ в Томской области составила 1 случай на 5882 новорожденных. Установлены относительные частоты отдельных мутаций гена CFTR.
We present improvement algorithm of newborn screening for cystic fibrosis (CF), in which oblygatory DNA-testing stage among CF-high risk newborns was incorporated alongside with traditional screening design. Such approach make it possible for early and accurate diagnostics of CF among newborns. CF frequency in Tomsk region was 1 in 5882 newborns. Allelic frequencies of the CFTR gene mutation were estimated.
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