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Tay-sachs disease heterozygote detection in Brazil: Comparison between tears and leukocytes as β-hexosaminidase a source

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Journal of Inherited Metabolic Disease

Abstract

Hexosaminidase A activities were determined in tears and peripheral leukocytes of carriers and noncarriers for Tay-Sachs Disease (TSD) as a percentage of total hexosaminidase activity. Correlation between enzyme activities in tears and leukocytes was highly significant (r=0.75,p<0.01). Compared to leukocytes, screening in tears revealed 100% sensitivity, 100% negative predictive value, 86% specificity and 80% positive predictive value. These results indicate that tears are a satisfactory material for mass-screening of TSD-carrier state, but positive results must be confirmed in peripheral leukocytes.

Seven heterozygotes were detected among 298 young Ashkenazi Jewish volunteers screened, giving an adjusted frequency of the TSD gene of 0.024.

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Authors and Affiliations

  1. Departamento de Bioquímica, Instituto de Bíociências, Universidade Federal do Rio Grande do Sul, 90.000, Porto Alegre, RS, Brasil

    M. S. Buchalter, C. M. D. Wannmacher & M. Wajner

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  1. M. S. Buchalter
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  2. C. M. D. Wannmacher
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  3. M. Wajner
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Buchalter, M.S., Wannmacher, C.M.D. & Wajner, M. Tay-sachs disease heterozygote detection in Brazil: Comparison between tears and leukocytes as β-hexosaminidase a source. J Inherit Metab Dis 7, 35–37 (1984). https://doi.org/10.1007/BF01805619

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  • DOI: https://doi.org/10.1007/BF01805619

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