Primary Article

Testing for the Tay‐Sachs Gene in the Atlanta Jewish Population

Authors: JANET P. MARION MS, DEAN J. DANNER PhD, W. RIP BALLOU AB, RALPH MARION MA, LOUIS J. ELSAS II MD

Abstract

ABSTRACTIn May 1975, three mass screening clinics for the asymptomatic Tay-Sachs carrier were held in Atlanta, Georgia. Ninety percent of the 2,330 adults screened were of Ashkenazi Jewish ancestry. One hundred seventy-six people were identified as possible carriers, 145 returned for retesting, and 74 were diagnosed as carriers. The Tay-Sachs heterozygote frequency estimated from this tested population was 0.043 or 1 in 23. Retesting of all possible carriers and assessment of their first-degree relatives were emphasized as aids in diagnosis of the carrier state. Our results indicated that the hexosaminidase A values in the white cell lysates used for the retest procedure provided a more reliable diagnosis of the carrier state than did enzyme values obtained from screening sera alone. Test results from first-degree relatives in all cases supported the assigned genotype of probands.

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