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In 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 saids in diagnosis of the carrier state. Our results indicated that the hexosaminidase A values in the white celll 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.
J P Marion, and
D J Danner, and
W R Ballou, and
R Marion, and
L J Elsas
May 1975,
American journal of human genetics,
J P Marion, and
D J Danner, and
W R Ballou, and
R Marion, and
L J Elsas
February 2001,
American journal of medical genetics,
J P Marion, and
D J Danner, and
W R Ballou, and
R Marion, and
L J Elsas
January 1983,
Issues in health care of women,
J P Marion, and
D J Danner, and
W R Ballou, and
R Marion, and
L J Elsas
August 1973,
British medical journal,
J P Marion, and
D J Danner, and
W R Ballou, and
R Marion, and
L J Elsas
August 1973,
Lancet (London, England),
J P Marion, and
D J Danner, and
W R Ballou, and
R Marion, and
L J Elsas
March 2015,
Journal of paediatrics and child health,
J P Marion, and
D J Danner, and
W R Ballou, and
R Marion, and
L J Elsas
January 1993,
Human molecular genetics,
J P Marion, and
D J Danner, and
W R Ballou, and
R Marion, and
L J Elsas
November 1973,
Lancet (London, England),
J P Marion, and
D J Danner, and
W R Ballou, and
R Marion, and
L J Elsas
January 2012,
Harefuah,
J P Marion, and
D J Danner, and
W R Ballou, and
R Marion, and
L J Elsas
August 1992,
American journal of human genetics,
