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

18Citations
Citations of this article
20Readers
Mendeley users who have this article in their library.
Get full text

Abstract

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. © 2003 Wiley-Liss, Inc.

Cite

CITATION STYLE

APA

Gable, M., Williams, M., Stephenson, A., Okano, Y., Ring, S., Hurtubise, M., & Tyfield, L. (2003). Comparative multiplex dosage analysis detects whole exon deletions at the phenylalanine hydroxylase locus. Human Mutation, 21(4), 379–386. https://doi.org/10.1002/humu.10199

Register to see more suggestions

Mendeley helps you to discover research relevant for your work.

Already have an account?

Save time finding and organizing research with Mendeley

Sign up for free