Mutation spectrum of six genes in Chinese phenylketonuria patients obtained through next-generation sequencing.

ABSTRACT:

Background

The identification of gene variants plays an important role in the diagnosis of genetic diseases.

Methodology/principal findings

To develop a rapid method for the diagnosis of phenylketonuria (PKU) and tetrahydrobiopterin (BH4) deficiency, we designed a multiplex, PCR-based primer panel to amplify all the exons and flanking regions (50 bp average) of six PKU-associated genes (PAH, PTS, GCH1, QDPR, PCBD1 and GFRP). The Ion Torrent Personal Genome Machine (PGM) System was used to detect mutations in all the exons of these six genes. We tested 93 DNA samples from blood specimens from 35 patients and their parents (32 families) and 26 healthy adults. Using strict bioinformatic criteria, this sequencing data provided, on average, 99.14% coverage of the 39 exons at more

SUBMITTER: Gu Y 

PROVIDER: S-EPMC3976377 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature