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南非的泰-萨克斯病筛查与预防

Tay-Sachs disease screening and prevention in South Africa.

作者信息

Jenkins T, Lane A B, Kromberg J G

出版信息

S Afr Med J. 1977 Jan 22;51(4):95-8.

PMID:841439
Abstract

Tay-Sachs disease is potentially preventable in Ashkenazi Jewish communities. About 1 out of 25 individuals is a carrier of the gene and can be accurately identified by means of a simple, inexpensive blood test. 'At risk' couples, i.e. couples of whom both partners are carriers, can be enabled, by means of prenatal diagnosis and selective abortion, to have only unaffected children. Mass screening programmes have been successfully carried out in the USA, Canada and Israel. A discussion of South African Jewish deomgraphy, attitudes to health, and priorities for public health projects, provide the background to a consideration of Tay-Sachs disease prevention in South Africa.

摘要

在阿什肯纳兹犹太人群体中,泰-萨克斯病有可能得到预防。大约每25个人中就有1人是该基因的携带者,通过一种简单、廉价的血液检测就能准确识别。“有风险”的夫妇,即双方都是携带者的夫妇,借助产前诊断和选择性流产,可以只生育未受影响的孩子。大规模筛查项目已在美国、加拿大和以色列成功开展。对南非犹太人口统计学、健康观念以及公共卫生项目优先事项的讨论,为在南非预防泰-萨克斯病的思考提供了背景。

相似文献

1
Tay-Sachs disease screening and prevention in South Africa.南非的泰-萨克斯病筛查与预防
S Afr Med J. 1977 Jan 22;51(4):95-8.
2
Tay-Sachs disease: a pilot screening program for the detection of the heterozygote in the Charleston Jewish community.泰-萨克斯病:查尔斯顿犹太社区中检测杂合子的一项试点筛查计划。
South Med J. 1976 Nov;69(11):1453-5.
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Community screening for Tay-Sachs disease.泰-萨克斯病的社区筛查。
Am Fam Physician. 1976 Apr;13(4):111-4.
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Approaches to the control and prevention of Tay-Sachs disease.控制和预防泰-萨克斯病的方法。
Prog Med Genet. 1974;10:103-34.
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Carrier screening for cystic fibrosis, Gaucher disease, and Tay-Sachs disease in the Ashkenazi Jewish population: the first 1000 cases at New York University Medical Center, New York, NY.对阿什肯纳兹犹太人群进行囊性纤维化、戈谢病和泰-萨克斯病的携带者筛查:纽约大学医学中心(位于纽约州纽约市)的前1000例病例
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Tay-Sachs screening: current status in South Africa.泰-萨克斯病筛查:南非的现状
Prog Clin Biol Res. 1977;18:61-7.
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Tay-Sachs disease in South Africa.南非的泰-萨克斯病。
S Afr Med J. 1973 Feb 3;47(5):181-3.
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Screening for carriers of Tay-Sachs disease in the ultraorthodox Ashkenazi Jewish community in Israel.在以色列极端正统派阿什肯纳兹犹太社区对泰-萨克斯病携带者进行筛查。
Am J Med Genet. 1993 Aug 15;47(2):213-5. doi: 10.1002/ajmg.1320470214.
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Screening for carriers of Tay-Sachs disease among Ashkenazi Jews. A comparison of DNA-based and enzyme-based tests.对阿什肯纳兹犹太人进行泰-萨克斯病携带者筛查。基于DNA检测和基于酶检测的比较。
N Engl J Med. 1990 Jul 5;323(1):6-12. doi: 10.1056/NEJM199007053230102.
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Knowledge about and attitudes toward genetic screening among high-school students: the Tay-Sachs experience.高中生对基因筛查的了解与态度:泰-萨克斯病的相关经历
Pediatrics. 1977 Jan;59(1):86-90.

引用本文的文献

1
Genetic services and testing in South Africa.南非的基因服务与检测
J Community Genet. 2013 Jul;4(3):413-23. doi: 10.1007/s12687-012-0101-5. Epub 2012 Jun 19.
2
Tay-Sachs disease preconception screening in Australia: self-knowledge of being an Ashkenazi Jew predicts carrier state better than does ancestral origin, although there is an increased risk for c.1421 + 1G > C mutation in individuals with South African heritage.澳大利亚的泰-萨克斯病孕前筛查:自我知晓为阿什肯纳兹犹太人比祖籍更能预测携带者状态,尽管有南非血统的个体中c.1421 + 1G > C突变风险增加。
J Community Genet. 2011 Dec;2(4):201-9. doi: 10.1007/s12687-011-0057-x. Epub 2011 Jul 15.
3
Medical genetics in South Africa.
南非的医学遗传学
J Med Genet. 1990 Dec;27(12):760-79. doi: 10.1136/jmg.27.12.760.