DNA-based diagnostics for adrenoleukodystrophy in a large New Zealand family

N Z Med J. 1996 Aug 23;109(1028):312-5.


Aim: To develop a DNA-based diagnostic test for adrenoleukodystrophy (ALD) in a large New Zealand family.

Methods: Mutation screening of the X chromosome-linked ALD gene was undertaken by direct sequencing of PCR amplified products encompassing defined exons of the ALD gene. The identification of a mutation led to the development of a simple restriction enzyme digestion protocol of a PCR amplified product to identify those individuals with the mutation.

Results: A nonsense mutation, resulting in deduced premature termination of translation of the ALD gene product, was detected in exon 4 of the ALD gene in an affected male. This mutation was found in three obligate gene carriers in the same ALD family. A DNA-based test was established to identify this mutation by Bgl II digestion of a PCR amplified product encompassing exons 3 and 4 of the ALD gene. The DNA-based test was applied to a chorionic villus sampling for prenatal diagnosis.

Conclusions: A simple DNA-based test has been developed for ALD in a large New Zealand family. This test provides a rapid means of determining carrier status and for undertaking prenatal diagnosis for ALD in this family.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adrenoleukodystrophy / diagnosis
  • Adrenoleukodystrophy / genetics*
  • Adult
  • Child
  • Child, Preschool
  • Chorionic Villi Sampling
  • Codon, Nonsense / genetics
  • DNA / analysis
  • DNA / genetics*
  • DNA Mutational Analysis
  • Exons / genetics
  • Female
  • Gene Amplification
  • Genetic Linkage / genetics
  • Genetic Testing
  • Heterozygote
  • Humans
  • Male
  • Mutation / genetics
  • New Zealand
  • Polymerase Chain Reaction
  • Protein Biosynthesis / genetics
  • Transcription, Genetic / genetics
  • X Chromosome / genetics


  • Codon, Nonsense
  • DNA