Tay-Sachs Carrier Screening by Enzyme and Molecular Analyses in the New York City Minority Population.

ABSTRACT:

Background and aims

Carrier screening for Tay-Sachs disease is performed by sequence analysis of the HEXA gene and/or hexosaminidase A enzymatic activity testing. Enzymatic analysis (EA) has been suggested as the optimal carrier screening method, especially in non-Ashkenazi Jewish (non-AJ) individuals, but its utilization and efficacy have not been fully evaluated in the general population. This study assesses the reliability of EA in comparison with HEXA sequence analysis in non-AJ populations.

Methods

Five hundred eight Hispanic and African American patients (516 samples) had EA of their leukocytes performed and 12 of these patients who tested positive by EA ("carriers") had subsequent HEXA gene sequencing performed.

Results

Of the 508 patients, 25 (4.9%) were EA po

SUBMITTER: Mehta N 

PROVIDER: S-EPMC5314723 | biostudies-literature | 2016 Sep

REPOSITORIES: biostudies-literature