Comparative multiplex dosage analysis detects whole exon deletions at the phenylalanine hydroxylase locus

  • Gable M
  • Williams M
  • Stephenson A
 et al. 
  • 17


    Mendeley users who have this article in their library.
  • 16


    Citations of this article.


We have developed quantitative comparative multiplex dosage analysis to detect altered copy number of regions of the phenylalanine hydroxylase gene. Out of 41 alleles (4% of 1,010 PKU chromosomes) on which a mutation had not been characterized previously, this technique has highlighted two novel mutations: deletions of exon 5 and of exon 6 on a total of eight alleles. Restriction-enzyme digestion of genomic DNA and hybridization to an amplified segment of the phenylalanine hydroxylase (PAH) cDNA probe PAH247 established the size of the deletion in five individuals to be between 700 and 900 bases. We also report somatic mosaicism in the parent of an affected child previously shown to have a deletion spanning exons 5 and 6. Finally, we report a putative duplication of a region encompassing exon 6 in an affected individual.

Author-supplied keywords

  • Multiplex dosage analysis
  • PAH
  • PKU
  • Phenylalanine hydroxylase
  • Phenylketonuria
  • Quantitative analysis
  • Somatic mosaicism

Get free article suggestions today

Mendeley saves you time finding and organizing research

Sign up here
Already have an account ?Sign in

Find this document


Cite this document

Choose a citation style from the tabs below

Save time finding and organizing research with Mendeley

Sign up for free