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

Abstract

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

Methods: 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.

Results: 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%).

Conclusion: 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.