Non-invasive prenatal diagnosis of beta-thalassemia and sickle-cell disease using pyrophosphorolysis-activated polymerization and melting curve analysis.
作者： Marion Phylipsen , Supawadee Yamsri , Emmely E. Treffers , Diahann T. S. L. Jansen , Warsha A. Kanhai
DOI: 10.1002/PD.3864
关键词:
摘要: Objective The aim of this study was to develop a pyrophosphorolysis-activated polymerization (PAP) assay for non-invasive prenatal diagnosis (NIPD) β-thalassemia major and sickle-cell disease (SCD). PAP is able detect mutations in free fetal DNA highly contaminating environment maternal plasma DNA. Methods Pyrophosphorolysis-activated primers were designed 12 informative SNPs, genotyped by melting curve analysis (MCA) both parents. The tested series 13 samples collected from pregnant women. A retrospective NIPD performed couple at risk SCD. Results All reactions optimized 97% wildtype gDNA. In all cases, the paternal allele detected 10 18 weeks gestation. For risk, showed presence normal SNP plasma, which confirmed results chorionic villus sampling analysis. Conclusions In contrast other methods used NIPD, combined MCA detecting also applicable couples carrying same mutation, provided that previously born child available testing determine linkage SNPs. © 2012 John Wiley & Sons, Ltd.
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