Application of DNA Microarray in Genetic Mutation Detection in Patients with Thalassemia / 中国实验血液学杂志
Journal of Experimental Hematology
; (6): 1561-1565, 2021.
Article
en Zh
| WPRIM
| ID: wpr-922295
Biblioteca responsable:
WPRO
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 --
Texto completo:
1
Base de datos:
WPRIM
Asunto principal:
China
/
Talasemia beta
/
Talasemia alfa
/
Análisis de Secuencia por Matrices de Oligonucleótidos
/
Mutación
Tipo de estudio:
Diagnostic_studies
Límite:
Humans
País/Región como asunto:
Asia
Idioma:
Zh
Revista:
Journal of Experimental Hematology
Año:
2021
Tipo del documento:
Article