Clinical application of non-invasive prenatal diagnosis of phenylketonuria based on haplotypes via paired-end molecular tags and weighting algorithm.

ABSTRACT:

Background

Phenylketonuria (PKU) is a metabolic disease that can cause severe and irreversible brain damage without treatment.

Methods

Here we developed a non-invasive prenatal diagnosis (NIPD) technique based on haplotypes via paired-end molecular tags and weighting algorithm and applied it to the NIPD of PKU to evaluate its accuracy and feasibility in the early pregnancy. A custom-designed hybridization probes containing regions in phenylalanine hydroxylase (PAH) gene and its 1 Mb flanking region were used for target sequencing on genomic and maternal plasma DNA (7-13 weeks of gestation) to construct the parental haplotypes and the proband's haplotype. Fetal haplotype was then inferred combined with the parental haplotypes and the proband's haplotype. The presence of haplo

SUBMITTER: Peng D 

PROVIDER: S-EPMC8684071 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature