Segmental duplication as potential biomarkers for non-invasive prenatal testing of aneuploidies.

ABSTRACT:

Background

Segmental duplication (SD) regions are distinct targets for aneuploidy detection owing to the virtual elimination of amplification bias. The difficulty of searching SD sequences for assay design has hampered their applications.

Methods

We developed a computational program, ChAPDes, which integrates SD searching, refinement, and design of specific PCR primer/probe sets in a pipeline to remove most of the manual work. The generated primer/probe sets were first tested in a multiplex multicolour melting curve analysis for the detection of five common aneuploidies. The primer/probe sets were then tested in a digital PCR assay for the detection of trisomy 21. Finally, a digital PCR protocol was established to quantify maternal plasma DNA sequences for the non-invasive p

SUBMITTER: Chen X 

PROVIDER: S-EPMC8374395 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature