2021PubMedRequires access

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

Liu-Qun Qin, Tizhen Yan, Shiqiang Luo, Pengfei Cai, Lizhu Chen, Qingyan Zhong, Jing-Ren Wang, Qiu-Hua Wang, Dejian Yuan, Jun Huang

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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: (3 cases, 10.34%). CONCLUSION: 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.

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What this paper is about

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: (3 cases, 10.34%). CONCLUSION: 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.

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Available 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: (3 cases, 10.34%). CONCLUSION: 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.

Key concepts: Thalassemia, Heterozygote advantage, Compound heterozygosity, Genotype, Point mutation, Genetics, Mutation, Microarray

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[Application of DNA Microarray in Genetic Mutation Detection in Patients with Thalassemia]. — Research Paper | ScholarLens