Methodological Evaluation of Microarray in the Detection of α-Thalassemia / 中国实验血液学杂志
Journal of Experimental Hematology
;
(6): 1907-1910, 2021.
Article
Dans Chinois
| WPRIM
| ID: wpr-922222
ABSTRACT
OBJECTIVE@#To proceed the clinical evaluation of DNA microarray for thalassemia gene detection.@*METHODS@#Peripheral blood samples of 166 thalassemia gene test subjects were collected and tested for thalassemia genes by microarray chip method and Gap-PCR method combined with PCR-reverse dot blot hybridization method according to double-blind control test. The specificity, sensitivity, positive predictive value, negative predictive value, and total coincidence rate of the microarray chip method were evaluated. When the two methods were inconsistent, multiplex ligation dependent probe amplification (MLPA) was used to verify the deletional α-thalassemia.@*RESULTS@#Compared with Gap-PCR method, specificity, sensitivity, positive predictive value, negative predictive value, Youden index, and total coincidence rate of microarray chip method was 100% (70/70), 96.88% (93/96), 100% (93/93), 95.89% (70/73), 0.969, and 97.59% (162/166), respectively, while compared with PCR-reverse dot blot hybridization method was 100% (125/125), 100% (41/41), 100% (41/41), 100% (125/125), 1, and 100% (166/166), respectively.@*CONCLUSION@#The microarray chip method for α-thalassemia gene detection shows the advantages of high specificity, sensitivity, and throughput.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Dépistage génétique
/
Alpha-Thalassémie
/
Séquençage par oligonucléotides en batterie
/
Réaction de polymérisation en chaine multiplex
Type d'étude:
Essai clinique contrôlé
/
Etude diagnostique
Limites du sujet:
Humains
langue:
Chinois
Texte intégral:
Journal of Experimental Hematology
Année:
2021
Type:
Article
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