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首页> 外文期刊>Sao Paulo Medical Journal >The frequency of Tay-Sachs disease causing mutations in the Brazilian Jewish population justifies a carrier screening program
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The frequency of Tay-Sachs disease causing mutations in the Brazilian Jewish population justifies a carrier screening program

机译：Tay-Sachs病在巴西犹太人口中引起突变的频率证明了携带者筛查计划的合理性

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CONTEXT: Tay-Sachs disease is an autosomal recessive disease characterized by progressive neurologic degeneration, fatal in early childhood. In the Ashkenazi Jewish population the disease incidence is about 1 in every 3,500 newborns and the carrier frequency is 1 in every 29 individuals. Carrier screening programs for Tay-Sachs disease have reduced disease incidence by 90% in high-risk populations in several countries. The Brazilian Jewish population is estimated at 90,000 individuals. Currently, there is no screening program for Tay-Sachs disease in this population. OBJECTIVE: To evaluate the importance of a Tay-Sachs disease carrier screening program in the Brazilian Jewish population by determining the frequency of heterozygotes and the acceptance of the program by the community. SETTING: Laboratory of Molecular Genetics - Institute of Biosciences - Universidade de S?o Paulo. PARTICIPANTS: 581 senior students from selected Jewish high schools. PROCEDURE: Molecular analysis of Tay-Sachs disease causing mutations by PCR amplification of genomic DNA, followed by restriction enzyme digestion. RESULTS: Among 581 students that attended educational classes, 404 (70%) elected to be tested for Tay-Sachs disease mutations. Of these, approximately 65% were of Ashkenazi Jewish origin. Eight carriers were detected corresponding to a carrier frequency of 1 in every 33 individuals in the Ashkenazi Jewish fraction of the sample. CONCLUSION: The frequency of Tay-Sachs disease carriers among the Ashkenazi Jewish population of Brazil is similar to that of other countries where carrier screening programs have led to a significant decrease in disease incidence. Therefore, it is justifiable to implement a Tay-Sachs disease carrier screening program for the Brazilian Jewish population.
机译：背景：Tay-Sachs病是一种常染色体隐性遗传疾病，其特征是进行性神经系统退化，在儿童早期死亡。在阿什肯纳兹（Ashkenazi）犹太人口中，该病的发病率约为每3,500个新生儿中有1人，携带者的频率是每29个人中有1人。在许多国家中，针对高脂血症的携带者筛查计划已将高危人群的疾病发病率降低了90％。巴西犹太人口估计有90,000人。当前，在该人群中没有针对泰-萨克斯氏病的筛查计划。目的：通过确定杂合子的发生频率和社区对该计划的接受程度，来评估泰-萨克斯病携带者筛查计划在巴西犹太人口中的重要性。地点：圣保罗大学生物科学研究所分子遗传学实验室。参加者：选定的犹太高中的581位高年级学生。程序：通过基因组DNA的PCR扩增，然后进行限制性酶切消化，对引起突变的Tay-Sachs病进行分子分析。结果：在581名参加过教育课程的学生中，有404名（70％）被选择接受Tay-Sachs疾病突变测试。其中，约有65％来自阿什肯纳兹犹太人。在样本的阿什肯纳兹犹太人分数中，检测到八个载波，对应于每33个人中1个的载波频率。结论：在巴西的阿什肯纳兹犹太人口中，Tay-Sachs疾病携带者的发生频率与其他国家相似，在这些国家中，携带者筛查计划导致疾病发病率显着下降。因此，有理由对巴西犹太人口实施泰-萨克斯病携带者筛查计划。

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