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Tay‐sachs disease heterozygote detection in Brazil: Comparison between tears and leukocytes as β‐hexosaminidase a source
Author(s) -
Buchalter M. S.,
Wannmacher C. M. D.,
Wajner M.
Publication year - 1984
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01805619
Subject(s) - heterozygote advantage , tears , hexosaminidase , medicine , peripheral blood , predictive value , negative correlation , disease , positive correlation , immunology , enzyme , gastroenterology , biology , gene , genetics , biochemistry , allele
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.