title: Development of a fibrous DNA chip for cost-effective β-thalassemia genotyping.
abstract: 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.
authors: Department of Physiology, Showa University School of Medicine, Hatanodai 1-5-8, Shinagawa-ku, Tokyo 142-8555, Japan.
authors: Wakako
authors: W
authors: Suzuki
authors: Takashi
authors: T
authors: Osaka
authors: Akihiko
authors: A
authors: Sekizawa
authors: Michihiro
authors: M
authors: Kitagawa
authors: Ikuo
authors: I
authors: Honma
mesh_terms: D005838:Genotype; D060005:Genotyping Techniques; D006801:Humans; D060885:Multiplex Polymerase Chain Reaction; D009154:Mutation; D020411:Oligonucleotide Array Sequence Analysis / Q000191:economics / Q000379:methods*; D015203:Reproducibility of Results; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D055544:beta-Globins