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

[phenylketonuria]

The identification of gene variants plays an important role in the diagnosis of genetic diseases .To develop a rapid method for the diagnosis of phenylketonuria (PKU ) and tetrahydrobiopterin (BH 4 ) 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 , GCH 1 , QDPR , PCBD 1 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 than 70 -fold mean depth of coverage . We found 23 previously documented variants in the PAH gene and six novel mutations in the PAH and PTS genes . A detailed analysis of the mutation spectrum of these patients is described in this study .These results were confirmed by Sanger sequencing . In conclusion , benchtop next -generation sequencing technology can be used to detect mutations in monogenic diseases and can detect both point mutations and indels with high sensitivity , fidelity and throughput at a lower cost than conventional methods in clinical applications .

Diseases
Validation

Diseases presenting "six novel mutations in the pah and pts genes" symptom

phenylketonuria

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