Application of DNA Microarray in Genetic Mutation Detection in Patients with Thalassemia.
10.19746/j.cnki.issn.1009-2137.2021.05.029
- Author:
Liu-Qun QIN
1
;
Ti-Zhen YAN
2
;
Shi-Qiang LUO
1
;
Peng-Fei CAI
1
;
Li-Zhu CHEN
1
;
Qing-Yan ZHONG
1
;
Jing-Ren WANG
1
;
Qiu-Hua WANG
1
;
De-Jian YUAN
1
;
Jun HUANG
1
Author Information
1. 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.
2. 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.
- Publication Type:Journal Article
- MeSH:
China;
Humans;
Mutation;
Oligonucleotide Array Sequence Analysis;
alpha-Thalassemia/genetics*;
beta-Thalassemia/genetics*
- From:
Journal of Experimental Hematology
2021;29(5):1561-1565
- CountryChina
- Language:Chinese
-
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 --
CONCLUSION:The most common genetic mutations are --
