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.
| Translated title of the contribution | Detection of homozygotes and heterozygote carriers of GM2-gangliosidosis |
|---|---|
| Original language | Russian |
| Pages (from-to) | 2179-2185 |
| Number of pages | 7 |
| Journal | Genetika |
| Volume | 22 |
| Issue number | 8 |
| State | Published - Aug 1 1986 |