Development of a fibrous DNA chip for cost-effective β-thalassemia genotyping
Development of a fibrous DNA chip for cost-effective β-thalassemia genotyping
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DOI：
10.1007/s12185-012-1153-3
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发表时间：
2012-07
影响因子：
2.1
通讯作者：
Wakako Suzuki;T. Osaka;A. Sekizawa;M. Kitagawa;I. Honma
中科院分区：
文献类型：
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作者：
Wakako Suzuki;T. Osaka;A. Sekizawa;M. Kitagawa;I. Honma
β-地中海贫血是世界上最常见的遗传性疾病之一。目前正在共同努力预防这种疾病，因为地中海贫血的医疗和经济负担是一个主要的公共卫生问题。目前，对导致这种疾病的β-珠蛋白突变的分子诊断涉及到经典方法的组合。已经开发出一种基于微阵列的并行一次检测突变的方法，但该方法仍然过于昂贵，无法进行常规应用。我们开发了一种基于塑料纤维的高性价比DNA芯片，用于快速可靠地检测25种类型的β-地中海贫血突变。建立了检测条件，并成功地对一例β-地中海贫血患者的基因组样本进行了基因分型。我们的数据表明，该β-地中海贫血基因分型芯片成本低、见效快、可靠性高，是进行大规模基因分型的有利平台。
β-thalassemia is one of the most common genetic disorders worldwide. Concerted efforts are being made to prevent the disease, as the medical and economic burden of thalassemia represents a major public health problem. The molecular diagnosis of the β-globin mutations that cause the disease currently involves a combination of classic methodologies. A microarray-based assay for parallel one-shot detection of mutations has been developed, but the assay remains too expensive for routine application. We developed a cost-effective plastic fiber-based DNA chip for the fast and reliable detection of 25 types of β-thalassemia mutations. Assay conditions were established and genotyping was successfully performed on a genomic sample from a β-thalassemia patient. Our data show that this β-thalassemia genotyping chip is an advantageous platform for mass genotyping because of its low cost, rapid results, and reliability.