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用于筛查亚洲人和美国黑人β地中海贫血突变的反向斑点杂交探针。

Reverse dot blot probes for the screening of beta-thalassemia mutations in Asians and American blacks.

作者信息

Cai S P, Wall J, Kan Y W, Chehab F F

机构信息

Department of Laboratory Medicine, University of California, San Francisco 94143-0134.

出版信息

Hum Mutat. 1994;3(1):59-63. doi: 10.1002/humu.1380030110.

Abstract

We have optimized a battery of reverse dot blot oligonucleotide probes for detecting the most common beta-globin gene mutations in Asians and American Blacks. These probes allow a high degree of coverage of mutant chromosomes in these two populations and are useful in mutation screening and prenatal diagnosis. When coupled with the Mediterranean subset of probes, a 95% worldwide coverage of beta-thalassemia mutations should be possible. The use of these probes in the reverse dot blot system should allow the distribution of premade strips and application to automated screening.

摘要

我们已经优化了一组反向斑点杂交寡核苷酸探针,用于检测亚洲人和美国黑人中最常见的β-珠蛋白基因突变。这些探针能够高度覆盖这两个人群中的突变染色体,可用于突变筛查和产前诊断。与地中海地区的探针子集相结合,应该有可能在全球范围内覆盖95%的β地中海贫血突变。在反向斑点杂交系统中使用这些探针,应能实现预制条带的分发并应用于自动化筛查。

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