Detection of alpha(0)‐thalassemia South‐East Asian‐type deletion by droplet digital PCR

Abstract

The ddPCR may be one alternative technology available for routine clinical diagnosis of α(0)-thalassemia SEA-type deletion and prenatal diagnosis of Bart's hydrops fetalis.

Comparative analysis between RQ‐PCR and digital‐droplet‐PCR of immunoglobulin/T‐cell receptor gene rearrangements to monitor minimal residual disease in acute lymphoblastic leukaemia

“…Droplet digital PCR (ddPCR) (Hindson et al , ; Pinheiro et al , ) is the third‐generation implementation of conventional PCR that enables the quantitation of nucleic acid targets without the need of the calibration curves (Vogelstein & Kinzler, ). Recently, ddPCR technology has been applied to various fields of medical diagnostics, particularly prenatal diagnosis (Fan et al , ; Tsui et al , ; Pornprasert & Prasing, ). A high degree of efficiency, sensitivity and accuracy of ddPCR compared to RQ‐PCR has also been reported in molecular oncology (Diehl & Diaz, ; Hindson et al , ; Sanders et al , ; Whale et al , ).…”

Droplet digital PCR for BCR/ABL(P210) detection of chronic myeloid leukemia: A high sensitive method of the minimal residual disease and disease progression

“…Also, it has been proved that dd-PCR is more sensitive to detect rare targets at low copy numbers than the RT-qPCR. 26,27 In cell experiments, detection sensitivities of dd-PCR and RT-qPCR were identified, with the conversion between results of the two methods based on the same amount of template results as Y = 33. In the present study, within 3 months before loss of MR4.0, 4 of the 10 patients who loss of MR4.0 presented markedly increased dd-PCR results compared with those of RT-qPCR.…”

Rapid detection of α‐thalassaemia variants using droplet digital PCR

“…Melting curve analysis has also been used to detect common alpha deletional alleles such as ‐‐ SEA , ‐α 3.7 and ‐α 4.2, but the inability to distinguish some different genotypes accurately when it is inherited in allelic pairs due to the homologous α1 and α2 genes limits its potential to be used widely . In Thailand, a study has been carried out only on the Southeast Asian (‐‐ SEA ) deletion using ddPCR for prenatal diagnosis of Bart's hydrops foetalis . The specific target which detect only on the (‐‐ SEA ) deletion using ddPCR limits the use of this technology to detect other alpha thalassaemia mutations.…”