Tay-sachs disease heterozygote selection

• Autor(a) principal: Schmidt, Benjamin José [UNIFESP]
• Data de Publicação: 1978
• Outros Autores: Diamet, A. J., Nishimura, R., Wakamoto, M.
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Institucional da UNIFESP
• Texto Completo: http://dx.doi.org/10.1203/00006450-197810000-00026; http://repositorio.unifesp.br/handle/11600/24780

The authors determined the serum hexosaminidase A levels in 197 subjects (106 males and 91 females); 174 were adults and 23 were children aged from 20 days to 15 years; 13 of the children were of Jewish origin, the other 10 children were non-Jewish. Of the total 197 subjects, 94 (51 males and 43 females) were Jews whose ancestors lived in Western and Central Europe (Ashkenazi). The other 103 subjects (53 males and 50 females) had no Jewish ancestors. The serum hexosaminidase A levels were determined following the method of O'Brien et al. (1970) modified by Kaback (Methods Enzymol., 28: 862 (1973)). In those cases where the results were doubtful, especially in the pregnant women (6), the hexosaminidase A levels were also tested in the leukocyte, according to the method described by Kaback and Zeiger (Advan. Exp. Med. Biol., 19: 13 (1972)). The results are presented in Table 1. Comments: The high incidence of heterozygote carriers of Tay-Sachs disease in Ashkenazi Jews (1:30), emphasized once more by this investigation, justifies the population screening for these heterozygotes, particularly among Jews, in order to offer genetic counseling and try to prevent further cases of Tay-Sachs disease.