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(1990)
Tay-Sachs hexos- aminidase assay
Human ,B-hexosaminidase a chain: Coding sequence and homology with the f8 chain
(1998)
Reproductive decisionmaking andmedical genet- ics: An empirical study of individual decision processes
J. Struewing, C. Lerman, R. Kase, T. Giambarresi, M. Tucker (1995)
Anticipated uptake and impact of genetic testing in hereditary breast and ovarian cancer families.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology, 4 2
P. Bross, M. Jørgensen, N. Gregersen (2005)
The Metabolic and Molecular Basis of Inherited Disease: Protein Folding and Misfolding: the Role of Cellular Protein Quality Control Systems in Inherited Disorders
M. Fernandes, F. Kaplan, C. Clow, P. Hechtman, C. Scriver, J. Mulvihill (1992)
Specificity and sensitivity of hexosaminidase assays and DNA analysis for the detection of tay‐sachs disease gene carriers among Ashkenazic JewsGenetic Epidemiology, 9
M. Kaback, J. Lim-Steele, Deepti Dabholkar, David Brown, N. Levy, K. Zeiger (1993)
Tay-Sachs Disease— Carrier Screening, Prenatal Diagnosis, and the Molecular Era: An International Perspective, 1970 to 1993JAMA, 270
K. Barlow-Stewart, L. Burnett, A. Proos, V. Howell, F. Huq, R. Lazarus, H. Aizenberg (2003)
A genetic screening programme for Tay-Sachs disease and cystic fibrosis for Australian Jewish high school studentsJournal of Medical Genetics, 40
M. Kaback, J. Lim-Steele, Deepti Dabholkar, David Brown, N. Levy, K. Zeiger (1993)
Tay-Sachs disease--carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970 to 1993. The International TSD Data Collection Network.JAMA, 270 19
(1995)
The GM2 gang- liosidoses
S. Okada (1970)
[Tay-Sachs disease].Nihon rinsho. Japanese journal of clinical medicine, 31 8
M. Natowicz, E. Prence (1996)
Heterozygote screening for Tay-Sachs disease: past successes and future challenges.Current opinion in pediatrics, 8 6
M. Kaback (2000)
Population-based genetic screening for reproductive counseling: the Tay-Sachs disease modelEuropean Journal of Pediatrics, 159
L. Roberts (1990)
One worked; the other didn't.Science, 247 4938
Gideon Bach, J. Tomczak, N. Risch, J. Ekstein (2001)
Tay-Sachs screening in the Jewish Ashkenazi population: DNA testing is the preferred procedure.American journal of medical genetics, 99 1
A. Clarke (1994)
The genetic testing of children. Working Party of the Clinical Genetics Society (UK)Journal of Medical Genetics, 31
A. Middleton, J. Hewison, R. Mueller (1998)
Attitudes of deaf adults toward genetic testing for hereditary deafness.American journal of human genetics, 63 4
R. Myerowitz, R. Piekarz, E. Neufeld, T. Shows, K. Suzuki (1985)
Human beta-hexosaminidase alpha chain: coding sequence and homology with the beta chain.Proceedings of the National Academy of Sciences of the United States of America, 82 23
K. Sandhoff (1969)
Variation of β‐N‐acetylhexosaminidase‐pattern in Tay‐Sachs diseaseFEBS Letters, 4
E. Broide, M. Zeigler, Joseph Eckstein, Gideon Bach (1993)
Screening for carriers of Tay-Sachs disease in the ultraorthodox Ashkenazi Jewish community in Israel.American journal of medical genetics, 47 2
R. Myerowitz (1988)
Splice junction mutation in some Ashkenazi Jews with Tay-Sachs disease: evidence against a single defect within this ethnic group.Proceedings of the National Academy of Sciences of the United States of America, 85 11
J. Mitchell, Annie Capua, C. Clow, C. Scriver (1996)
Twenty-year outcome analysis of genetic screening programs for Tay-Sachs and beta-thalassemia disease carriers in high schools.American journal of human genetics, 59 4
D. Wilkinson (1974)
For whose benefit? Politics and sickle cell.The Black scholar, 5 8
Mairi Levit (1999)
The ethics and impact on behaviour of knowledge about one's own genomeBMJ, 319
A. Clarke (1998)
The Genetic Testing of Children
S. Okada, J. O'brien (1969)
Tay-Sachs Disease: Generalized Absence of a Beta-D-N-Acetylhexosaminidase ComponentScience, 165
R. Navon, R. Proia (1989)
The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease.Science, 243 4897
C. Scriver (1995)
Assessing Genetic Risks: Implications for Health and Social PolicyAmerican Journal of Human Genetics, 56
E. Banet, Enrique Ayuso (2000)
Teaching genetics at secondary school: A strategy for teaching about the location of inheritance informationScience Education, 84
L. Roberts (1990)
To test or not to test?Science, 247 4938
L. Burnett, A. Proos, Doug Chesher, V. Howell, Leslie Longo, Vivienne Tedeschi, Victoria Yang, N. Siafakas, G. Turner (1995)
The Tay‐Sachs disease prevention program in Australia: Sydney pilot studyMedical Journal of Australia, 163
H. Bekker, M. Modell, G. Denniss, Anne Silver, Christopher Mathew, M. Bobrow, Theresa Marteau (1993)
Uptake of cystic fibrosis testing in primary care: supply push or demand pull?British Medical Journal, 306
R. Myerowitz, F. Costigan (1988)
The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase.The Journal of biological chemistry, 263 35
M. Kaback, T. Nathan, S. Greenwald (1977)
Tay-Sachs disease: heterozygote screening and prenatal diagnosis--U.S. experience and world perspective.Progress in clinical and biological research, 18
(1999)
Public perception of genetic testing
C. Clow, C. Scriver (1977)
Knowledge about and attitudes toward genetic screening among high-school students: the Tay-Sachs experience.Pediatrics, 59 1
T. Marteau, E. Dormandy, S. Michie (2001)
A measure of informed choiceHealth Expectations, 4
L. Andrews (1994)
Assessing Genetic Risks: Implications for Health and Social PolicyBMJ, 309
(1993)
An inter- national perspective, 1970–93
Tay-Sachs Disease (TSD) is an autosomal recessive neurodegenerative disorder. TSD is prevalent in the Ashkenazi Jewish population, and carrier screening programs have been implemented worldwide in these communities. A screening program initiated in 1997 involving the Melbourne Jewish community (Australia) incorporated education, counselling and carrier testing of high-school students aged 15 to 18 years. This study aimed to assess the participation rates, level of knowledge obtained and predicted feelings and attitudes of the students involved. Seven hundred and ten students participated, there was a 67% uptake for testing with a carrier rate of 1 in 28 determined. The level of knowledge of the students following education was high and of relative importance in regard to decision making, as were their feelings and attitudes about genetic testing for carrier status. A significant impediment to test uptake was the need for blood sampling, resulting in a recommendation for the introduction of DNA analysis on cheek brush samples. The evaluation of this program has given a wider scope for further development as well as providing valuable information for the implementation of community screening programs.
Clinical Genetics – Wiley
Published: May 1, 2003
Keywords: education; genetics; screening; Tay-Sachs Disease
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