[Application of DNA Microarray in Genetic Mutation Detection in Patients with Thalassemia].
Zhongguo Shi Yan Xue Ye Xue Za Zhi
; 29(5): 1561-1565, 2021 Oct.
Article
en Zh
| MEDLINE
| ID: mdl-34627440
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 ß-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 ß-thalassemia and 29 cases (7.07%) carried gene mutations of complex αß-thalassemia syndrome. The mutations of α-thalassemia were involved with --SEA heterozygous deletion (177 cases, 59.2%), αCS heterozygote (60 cases, 20.07%) and several other genotypes. The common mutations of ß- thalassemia were involved with ßCD41-42 heterozygote (10 cases, 34.48%) and ßCD17 heterozygote (9 cases, 31.03%). The mutations of complex αß-thalassemia syndrome were mainly involved with --SEA/αα+ßCD17/ßN (7 cases, 24.14%), αCSα/αα + ßCD41-42/ßN (3 cases, 10.34%) and -α4.2/αα + ßCD17/ßN (3 cases, 10.34%).CONCLUSION:
The most common genetic mutations are --SEA for α-thalassemia and CD41-42 for ß-thalassemia in Liuzhou, Guangxi Zhuang Autonomous Region. A and ß-thalassemia can be detected at the same time by microarray chip technology in a high throughput manner.
Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
Talasemia beta
/
Talasemia alfa
Tipo de estudio:
Diagnostic_studies
País/Región como asunto:
Asia
Idioma:
Zh
Revista:
Zhongguo Shi Yan Xue Ye Xue Za Zhi
Asunto de la revista:
HEMATOLOGIA
Año:
2021
Tipo del documento:
Article