Methodological Evaluation of Microarray in the Detection of α-Thalassemia.
10.19746/j.cnki.issn.1009-2137.2021.06.037
- Author:
Peng-Fei CAI
1
;
Liu-Qun QIN
1
;
Shi-Qiang LUO
1
;
Li-Zhu CHEN
1
;
Qing-Yan ZHONG
1
;
Jing-Ren WANG
1
;
Qiu-Hua WANG
1
;
Jun HUANG
1
;
Ti-Zhen YAN
2
Author Information
1. Department of Medical Genetics, Liuzhou Key Laboratory of Birth Defect Prevention and Control, Liuzhou Maternity and Child Healthcare Hospital, Liuzhou 545001, Guangxi Zhuang Autonomous Region, China.
2. Department of Medical Genetics, Liuzhou Key Laboratory of Birth Defect Prevention and Control, Liuzhou Maternity and Child Healthcare Hospital, Liuzhou 545001, Guangxi Zhuang Autonomous Region, China,E-mail: 439078813@qq.com.
- Publication Type:Journal Article
- MeSH:
Genetic Testing;
Humans;
Multiplex Polymerase Chain Reaction;
Oligonucleotide Array Sequence Analysis;
alpha-Thalassemia/genetics*
- From:
Journal of Experimental Hematology
2021;29(6):1907-1910
- CountryChina
- Language:Chinese
-
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.
