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Study of fibroblast and leucocyte Beta-Galactosidase activity in a family with multiple cases of GM1 gangliosidosis

Adriana Folberg^I,II; Roberto Giugliani^I,II; Heloisa H.R. de Andrade^I; Walter Pinto Jr.^III

^IDepartamento de Genética, Universidade Federal do Rio Grande do Sul, 91501 Porto Alegre, RS, Brasil
^IIUnidade de Genética Médica, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350, 90210 Porto Alegre, RS, Brasil. Send correspondence to R.G.
^IIIDepartamento de Genética Médica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, 13083 Campinas, SP, Brasil

ABSTRACT

In this study we investigated a family with multiple cases of GM 1 gangliosidosis in order to identify heterozygous subjects through the measurement of the activity of beta-galactosidase in cultured fibroblasts and to test the possibility of performing this detection also in leucocytes.
From the results obtained in fibroblasts, and taking into account the genealogical details, it was possible to forecast the probable genotype of each subject studied. It was also possible to estimate the mean value and the range of the activity of beta-galactosidase in heterozygous subjects in this family. The activity of beta-galactosidase in leucocytes showed a wide variation and no correlation with the results obtained in fibroblasts.
We conclude that the assay of beta-galactosidase in fibroblasts can be a viable method for the identification of heterozygotes in an appropriate familial context, a fact that does not appear to be true for leucocytes, though more data are needed from the study of a larger number of normal individuals and of obligate carriers from unrelated families.

Keywords: Fibroblast and leucocyte beta-galactosidase; GM1; Gangliosidosis.

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