Tay-Sachs disease heterozygote detection in Brazil: comparison between tears and leukocytes as beta-hexosaminidase A source.

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 less than 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.

journal_name

J Inherit Metab Dis

authors

Buchalter MS,Wannmacher CM,Wajner M

doi

10.1007/BF01805619

subject

Has Abstract

pub_date

1984-01-01 00:00:00

pages

35-7

issue

1

eissn

0141-8955

issn

1573-2665

journal_volume

7

pub_type

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