[Application of DNA Microarray in Genetic Mutation Detection in Patients with Thalassemia]

To perform dried blood spots thalassemia gene detection in patients with positive blood phenotypes by microarray technology, and evaluate its value in clinical detection.

DNA samples were extracted from dried blood spots of 410 patients. Microarray technology was used to detect 3 deletion and 3 non-deletion types of α-thalassemia and 19 β-thalassemia point mutations which were common gene mutions in China.

There were 357 positive cases in all the 410 tested samples with the positive rate 87.07%, among which 299 cases (72.93%) carried deletion or point mutations of α-thalassemia, 29 cases (7.07%) carried point mutations of β-thalassemia and 29 cases (7.07%) carried gene mutations of complex αβ-thalassemia syndrome. The mutations of α-thalassemia were involved with --^SEA heterozygous deletion (177 cases, 59.2%), α^CS heterozygote (60 cases, 20.07%) and several other genotypes. The common mutations of β- thalassemia were involved with β^CD41-42 heterozygote (10 cases, 34.48%) and β^CD17 heterozygote (9 cases, 31.03%). The mutations of complex αβ-thalassemia syndrome were mainly involved with --^SEA/αα+β^CD17/β^N (7 cases, 24.14%), α^CSα/αα + β^CD41-42/β^N (3 cases, 10.34%) and -α^4.2/αα + β^CD17/β^N (3 cases, 10.34%).

The most common genetic mutations are --^SEA for α-thalassemia and CD41-42 for β-thalassemia in Liuzhou, Guangxi Zhuang Autonomous Region. A and β-thalassemia can be detected at the same time by microarray chip technology in a high throughput manner.