[Detection of homozygotes and heterozygote carriers of GM2-gangliosidosis].
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.
D002852:Chromatography, Ion Exchange; D005260:Female; D006580:Genetic Carrier Screening; D006596:Hexosaminidases / Q000032:analysis / Q000235:genetics; D006720:Homozygote; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012497:Sandhoff Disease / Q000175:diagnosis / Q000235:genetics*; D013661:Tay-Sachs Disease / Q000175:diagnosis / Q000235:genetics*
D006596:Hexosaminidases
Vyiavlenie gomozigot i geterozigotnykh nositeleĭ GM2-gangliozidozov.