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

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Abstract

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.

Original languageRussian
Pages (from-to)2179-2185
Number of pages7
JournalGenetika
Volume22
Issue number8
StatePublished - Aug 1 1986

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Aronovich, E. L., Krasnopol'skaia, K. D., Kukharenko, V. I., & Pichugina, E. M. (1986). Vyiavlenie gomozigot i geterozigotnykh nositeleǐ GM2-gangliozidozov. Genetika, 22(8), 2179-2185.