Probe melting curve analysis-based PCR assay for the rapid detection of non-deletionα-thalassemia(αT) / 国际检验医学杂志

ABSTRACT

Objective To investigate the clinical value of the probe melting curve analysis‐based PCR assay for the detection of three types of αT .Methods A total of 149 blood and prenatal archival DNA samples (6 of which were amniotic fluid samples)with three knownαT genes ,which included 63 carriers with Hb CS ,22 cases with Hb QS ,43 individuals with Hb WS and 1 double heter‐ozygote with Hb CS and Hb WS) as well as 20 samples with normalα‐globin gene sequence that had been confirmed by RBD com‐bined with DNA sequencing were selected to test the specificity of probe melting curve analysis by blind analysis .Results The probe melting curve analysis accurately detected 100 of the DNA samples previously characterized by S RBD combined with DNA sequencing .Conclusion Probe melting curve analysis‐based PCR assay for the detection ofαT is featured with rapidity and accuracy and can be applied to clinical and prenatal diagnosis .