title: DNA-based diagnostics for adrenoleukodystrophy in a large New Zealand family.
abstract: OBJECTIVE
  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.
authors.affiliation: School of Biological Sciences, University of Auckland.
authors.forename: S A
authors.initials: SA
authors.lastname: Rowland
authors.forename: A
authors.initials: A
authors.lastname: Dodd
authors.forename: A L
authors.initials: AL
authors.lastname: Roche
authors.forename: S
authors.initials: S
authors.lastname: Manilal
authors.forename: M A
authors.initials: MA
authors.lastname: Kennedy
authors.forename: D M
authors.initials: DM
authors.lastname: Becroft
authors.forename: S
authors.initials: S
authors.lastname: Tonkin
authors.forename: C
authors.initials: C
authors.lastname: Chapman
authors.forename: D R
authors.initials: DR
authors.lastname: Love
mesh_terms: D000293:Adolescent; D000326:Adrenoleukodystrophy / Q000175:diagnosis / Q000235:genetics*; D000328:Adult; D002648:Child; D002675:Child, Preschool; D015193:Chorionic Villi Sampling; D018389:Codon, Nonsense / Q000235:genetics; D004247:DNA / Q000032:analysis / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D005784:Gene Amplification; D008040:Genetic Linkage / Q000235:genetics; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics; D009520:New Zealand; D016133:Polymerase Chain Reaction; D014176:Protein Biosynthesis / Q000235:genetics; D014158:Transcription, Genetic / Q000235:genetics; D014960:X Chromosome / Q000235:genetics
chemical_list: D018389:Codon, Nonsense; D004247:DNA