[Study of the genetic heterogeneity of gangliosidoses in humans].
A study of genetic heterogeneity of GM1 and GM2 gangliosidoses was performed using a wide set of cultured fibroblast lines of patients with leukodystrophies. In addition to commonly used methods for enzyme diagnosis and for isozyme fractionating, following assays were developed for locus and allele differentiation: loading tests with 3H-GM1 and 3H-GM2, analytical chromatofocusing and activity determination of activator protein for GM2.
Akhunov
V S
VS
Aronovich
E L
EL
Krasnopol'skaia
K D
KD
Mirenburg
T V
TV
D000483:Alleles; D002874:Chromosome Mapping; D005347:Fibroblasts / Q000201:enzymology; D005732:Gangliosides / Q000235:genetics*; D014644:Genetic Variation; D006801:Humans; D007525:Isoelectric Focusing; D007527:Isoenzymes / Q000378:metabolism; D012497:Sandhoff Disease / Q000235:genetics*; D013661:Tay-Sachs Disease / Q000235:genetics*; D001619:beta-N-Acetylhexosaminidases / Q000378:metabolism
D005732:Gangliosides; D007527:Isoenzymes; D001619:beta-N-Acetylhexosaminidases
Issledovanie geneticheskoĭ geterogennosti gangliozidozov u cheloveka.