Vyiavlenie gomozigot i geterozigotnykh nositeleǐ GM2-gangliozidozov.

Translated title of the contribution: Detection of homozygotes and heterozygote carriers of GM2-gangliosidosis

E. L. Aronovich, K. D. Krasnopol'skaia, V. I. Kukharenko, E. M. Pichugina

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


11 patients with Tay-Sachs disease (TSD) and 4 patients with Sandhoff disease were identified using the methods of heat inactivation of hexosaminidase at 50 degrees C (3 and 4 hours) and electrofocusing on PAG-plates in the pH range 3.5-9.5. Ion exchange chromatography on DEAE cellulose DE-52 proved to be reliable for identification of heterozygotes in cases when the proband was not available. The incidence of TSD gene was estimated in 2 population samples--from the cities of Gomel and Kostroma. It was about 0.004 in the Gomel sample. No heterozygotes were detected in Kostroma.

Translated title of the contributionDetection of homozygotes and heterozygote carriers of GM2-gangliosidosis
Original languageRussian
Pages (from-to)2179-2185
Number of pages7
Issue number8
StatePublished - Aug 1 1986


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