The Southern Medical Journal (SMJ) is the official, peer-reviewed journal of the Southern Medical Association. It has a multidisciplinary and inter-professional focus that covers a broad range of topics relevant to physicians and other healthcare specialists.

SMJ // Article

Primary Article

Tay‐Sachs Disease A Pilot Screening Program for the Detection of the Heterozygote in the Charleston Jewish Community

Authors: J. FELIX ROGERS MS, EDWARD L. HOGAN MD, RONALD J. JORGENSON DDS

Abstract

ABSTRACT:A pilot screening program for the detection of the carrier (heterozygote) of the Tay-Sachs disease (TSD) gene has recently been completed at the Medical University of South Carolina. A fluorometric assay for serum hexosaminidase A and B was performed on the serum of 181 individuals from the Charleston Jewish community. One hundred seventy-six of these individuals were classified as normal based on the percent hexosaminidase A (Hex A) in their serum; five persons were classified as carriers of the Tay-Sachs gene, ingluding a young married couple who were later referred for genetic counseling.

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