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Molecular studies and prenatal diagnosis of phenylketonuria in Chinese patients

G X Fan1, L X Qing, Y Jun

  • 1Xin Hua Hospital, Shanghai Second Medical University, Shanghai Institute for Pediatric Research, China. xhkj@public.sta.net.cn

The Southeast Asian Journal of Tropical Medicine and Public Health
|June 13, 2001
PubMed

Insights

Prenatal diagnosis for phenylketonuria (PKU) is possible using PAH gene mutation screening and STR linkage analysis. This genetic testing strategy successfully identified PKU in 65-70% of families studied.

Area of Science:

  • Medical Genetics
  • Metabolic Disorders
  • Inborn Errors of Metabolism

Background:

  • Phenylketonuria (PKU) is a prevalent inborn error of metabolism.
  • Neonatal screening and low-phenylalanine diets prevent PKU-induced intellectual disability.
  • Some parents desire prenatal diagnosis for PKU.

Purpose of the Study:

  • To evaluate a molecular strategy for prenatal diagnosis of Phenylketonuria (PKU).
  • To screen for mutations in the PAH gene in PKU families.

Main Methods:

  • Screening for mutations in PAH gene exons 3 and 7.
  • Utilizing denaturing gradient gel electrophoresis (DGGE) and restriction enzyme analysis.
  • Employing short tandem repeat (STR) linkage analysis for genetic counseling.

Main Results:

  • Prenatal diagnosis was performed in 8 PKU families.
  • The combined genetic analysis approach achieved a 65-70% success rate for prenatal diagnosis.
  • All prenatal diagnoses were confirmed by newborn screening.

Conclusions:

  • A molecular strategy combining PAH gene mutation analysis and STR linkage is effective for PKU prenatal diagnosis.
  • This method offers valuable genetic information for families affected by Phenylketonuria.
  • Prenatal diagnosis aids in family planning and management of metabolic disorders.

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