Mutation analysis of the PAH gene in phenylketonuria patients from Rio de Janeiro, Southeast Brazil.

ABSTRACT:

Background

Phenylketonuria (PKU) is an autosomal recessive disease resulting from mutations in the PAH gene. Most of the patients are compound heterozygotes, and genotype is a major factor in determining the phenotypic variability of PKU. More than 1,000 variants have been described in the PAH gene. Rio de Janeiro's population has a predominance of Iberian, followed by African and Amerindian ancestries. It is expected that most PKU variants in this Brazilian state have originated in the Iberian Peninsula. However, rare European, African or pathogenic variants that are characteristic of the admixed population of the state might also be found.

Methods

A total of 102 patients were included in this study. Genomic DNA was isolated from dried blood spots. Sanger sequencing was use

SUBMITTER: Vieira Neto E 

PROVIDER: S-EPMC6081236 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature