Size Fractionation of Cell-Free DNA in Maternal Plasma and Its Application in Noninvasive Detection of Fetal Single Gene Point Mutations

摘要: Recent studies have shown that cell-free fetal DNA in maternal plasma can be enriched by means of size fractionation. This technique makes use the smaller fragments compared with isolated simultaneously. On this basis, a highly improved detection single gene point mutations is permitted. Here, we introduce agarose gel electrophoresis for fractionation from and beta-thalassemia size-fractionated using peptide nucleic acid-clamping polymerase chain reaction (PCR) combined an allele-specific real-time PCR assay. Matrix-assisted laser desorption ionization/time flight mass spectrometry has been reliably used plasma. We also present its genotyping paternally inherited single-nucleotide polymorphism alleles