疾病
遗传咨询
六边形
杂合子优势
泰-萨克斯病
载波测试
医学
己糖胺酶
基因检测
复合杂合度
遗传学
生物
突变
等位基因
基因
产前诊断
内科学
酶
怀孕
胎儿
生物化学
出处
期刊:Genetic Testing
[Mary Ann Liebert]
日期:1998-01-01
卷期号:2 (4): 271-292
被引量:50
标识
DOI:10.1089/gte.1998.2.271
摘要
Tay-Sachs disease (TSD) is an autosomal-recessive, progressive, and ultimately fatal neurodegenerative disorder. Within the last 30 years, the discovery of the enzymatic basis of the disease, namely deficiency of the enzyme hexosaminidase A, made possible both enzymatic diagnosis of TSD and heterozygote identification. In the last decade, the cloning of the HEXA gene and the identification of more than 80 associated TSD-causing mutations has permitted molecular diagnosis in many instances. TSD was the first genetic condition for which community-based screening for carrier detection was implemented. As such, the TSD experience can be viewed as a prototypic effort for public education, carrier testing, and reproductive counseling for avoiding fatal childhood disease. More importantly, the outcome of TSD screening over the last 28 years offers convincing evidence that such an effort can dramatically reduce incidence of the disease.
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