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

Autor:	Qin LQ; Department of Medical Genetics, Liuzhou Maternity and Child Healthcare Hospital, Liuzhou Key Laboratory of Birth Disease Prevention and Control, Liuzhou Maternity and Child Healthcare Hospital, Institute of Reproduction and Genetics, Liuzhou Maternity and Child Healthcare Hospital , Liuzhou545001, Guangxi Zhuang Autonomous Region, China., Yan TZ; Department of Medical Genetics, Liuzhou Maternity and Child Healthcare Hospital, Liuzhou Key Laboratory of Birth Disease Prevention and Control, Liuzhou Maternity and Child Healthcare Hospital, Institute of Reproduction and Genetics, Liuzhou Maternity and Child Healthcare Hospital , Liuzhou545001, Guangxi Zhuang Autonomous Region, China E-mail: yan1312@foxmail.com., Luo SQ; Department of Medical Genetics, Liuzhou Maternity and Child Healthcare Hospital, Liuzhou Key Laboratory of Birth Disease Prevention and Control, Liuzhou Maternity and Child Healthcare Hospital, Institute of Reproduction and Genetics, Liuzhou Maternity and Child Healthcare Hospital , Liuzhou545001, Guangxi Zhuang Autonomous Region, China., Cai PF; Department of Medical Genetics, Liuzhou Maternity and Child Healthcare Hospital, Liuzhou Key Laboratory of Birth Disease Prevention and Control, Liuzhou Maternity and Child Healthcare Hospital, Institute of Reproduction and Genetics, Liuzhou Maternity and Child Healthcare Hospital , Liuzhou545001, Guangxi Zhuang Autonomous Region, China., Chen LZ; Department of Medical Genetics, Liuzhou Maternity and Child Healthcare Hospital, Liuzhou Key Laboratory of Birth Disease Prevention and Control, Liuzhou Maternity and Child Healthcare Hospital, Institute of Reproduction and Genetics, Liuzhou Maternity and Child Healthcare Hospital , Liuzhou545001, Guangxi Zhuang Autonomous Region, China., Zhong QY; Department of Medical Genetics, Liuzhou Maternity and Child Healthcare Hospital, Liuzhou Key Laboratory of Birth Disease Prevention and Control, Liuzhou Maternity and Child Healthcare Hospital, Institute of Reproduction and Genetics, Liuzhou Maternity and Child Healthcare Hospital , Liuzhou545001, Guangxi Zhuang Autonomous Region, China., Wang JR; Department of Medical Genetics, Liuzhou Maternity and Child Healthcare Hospital, Liuzhou Key Laboratory of Birth Disease Prevention and Control, Liuzhou Maternity and Child Healthcare Hospital, Institute of Reproduction and Genetics, Liuzhou Maternity and Child Healthcare Hospital , Liuzhou545001, Guangxi Zhuang Autonomous Region, China., Wang QH; Department of Medical Genetics, Liuzhou Maternity and Child Healthcare Hospital, Liuzhou Key Laboratory of Birth Disease Prevention and Control, Liuzhou Maternity and Child Healthcare Hospital, Institute of Reproduction and Genetics, Liuzhou Maternity and Child Healthcare Hospital , Liuzhou545001, Guangxi Zhuang Autonomous Region, China., Yuan DJ; Department of Medical Genetics, Liuzhou Maternity and Child Healthcare Hospital, Liuzhou Key Laboratory of Birth Disease Prevention and Control, Liuzhou Maternity and Child Healthcare Hospital, Institute of Reproduction and Genetics, Liuzhou Maternity and Child Healthcare Hospital , Liuzhou545001, Guangxi Zhuang Autonomous Region, China., Huang J; Department of Medical Genetics, Liuzhou Maternity and Child Healthcare Hospital, Liuzhou Key Laboratory of Birth Disease Prevention and Control, Liuzhou Maternity and Child Healthcare Hospital, Institute of Reproduction and Genetics, Liuzhou Maternity and Child Healthcare Hospital , Liuzhou545001, Guangxi Zhuang Autonomous Region, China.
Jazyk:	čínština
Zdroj:	Zhongguo shi yan xue ye xue za zhi [Zhongguo Shi Yan Xue Ye Xue Za Zhi] 2021 Oct; Vol. 29 (5), pp. 1561-1565.
DOI:	10.19746/j.cnki.issn.1009-2137.2021.05.029
Abstrakt:	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 CS α/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.
Databáze:	MEDLINE
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