Identification of phenylketonuria patient genotypes using single-gene full-length sequencing.

ABSTRACT:

Background

Phenylketonuria (PKU) is a common, autosomal recessive inborn error of metabolism caused by PAH gene variants. After routine genetic analysis methods were applied, approximately 5% of PKU patients were still not diagnosed with a definite genotype.

Methods

In this study, for the first time, we identified PKU patients with unknown genotypes via single-gene full-length sequencing.

Results

The detection rate of PKU genotype increased from 94.6 to 99.4%, an increase of approximately 5%. The variants c.1199 + 502A > T and 1065 + 241C > A were found at a high frequency in Chinese PKU patients.

Conclusion

Our study suggest that single-gene full-length sequencing is a rapid, efficient and cost-effective tool to improve the genotype detection rate of PKU patie

SUBMITTER: Gao J 

PROVIDER: S-EPMC9308354 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature