Vestnik Rossiiskoi akademii meditsinskikh nauk · 1992
[A program of prevention of hereditary lysosomal diseases in the USSR].
Сравнительное исследованиеАннотация на английскомСтатьяНазвание и аннотация: Перевод в очереди
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Krasnopol'skaia K D, Mirenburg T V, Aronovich E L, Lebedeva T V, Akhunov V S, Odinokova O N, Chebysheva M V, Demina N A, Nikiforova O K, Kuznetsov M I
Аннотация
The organization of genetic counselling for the families of patients with lysosomal storage diseases (LSD) was based on the interaction of the genetic counselling units of this country with a laboratory of inherited metabolic diseases of the National Research Center of Medical Genetics, USSR AMS. All the patients from 705 families at risk were examined using biochemical techniques and methods of somatic cell genetics. In total the loci differentiation was performed for 309 patients with mucopolysaccharidoses, glycoproteinoses, mucolipidoses, sphingolipidoses and other LSD. 53 families at risk (of 277) were prenatally diagnosed. 66 fetuses were diagnosed for mucopolysaccharidoses, type I, II, III, A and B, VI, Tay-Sachs disease, Sandhoff's disease, GM1-gangliosidosis, metachromatic leukodystrophy, mannosidosis, and multiple sulfatidosis. In total 18 affected fetuses were diagnosed and aborted. All the prenatal diagnoses were verified. The prevalence of mucopolysaccharidoses in two Central Asian republics was evaluated as 1:15,000. An Uneven ethnic distribution of different mucopolysaccharides in the USSR has also been shown.