Mass spectrometric detection of an SNP panel as an internal positive control for fetal DNA analysis in maternal plasma.

摘要: Applications of fetal DNA detection in maternal plasma have been reported for the prenatal assessment RhD status, sex-linked disorders, and β-thalassemia. Because constitutes only 3% to 6% total (1), sequences may occasionally go undetected because low concentrations or loss during sample processing. Such false-negative results lead misinterpretation genotype consequently, false diagnoses. Thus incorporation analytical controls confirm presence is recommended. Other investigators developed a panel insertion-deletion polymorphisms serve this purpose(2). Single nucleotide (SNPs), however, are most abundant class human genome. We recently mass spectrometry based protocol, s ingle llele b ase e xtension r eaction (SABER), that allows sensitive specific SNPs plasma(3). applied SABER develop an SNP as …