Am J Hum Genet. 1991 Jul;49(1):175-83.

Mutation detection in phenylketonuria by using chemical cleavage of mismatch: importance of using probes from both normal and patient samples.

Forrest SM, Dahl HH, Howells DW, Dianzani I, Cotton RG.

Source

Olive Miller Protein Laboratory, Murdoch Institute, Royal Children's Hospital, Parkville, Victoria, Australia.

Erratum in

Am J Hum Genet 1992 Mar;50(3):659.

Abstract

mRNA from a postmortem liver sample of a patient with classical phenylketonuria was examined using the chemical cleavage of mismatch (CCM) method to search for mutations in phenylalanine hydroxylase. Initial screening identified a heterozygous alteration in exon 2 which changed the encoded amino acid from phenylalanine (TTC) to leucine (TTG) at codon 39 and a polymorphism at codon 430 where the change from CTG to CTC did not alter the encoded leucine. Use of the CCM technique also revealed that the control reference clone differed from the published sequence by having a substitution of isoleucine (ATT) for methionine (ATG) at codon 276 and CAA rather than CAG as the codon for glutamine 232. By using the mRNA from the patient instead of the control as the source for the radiolabeled probe for the CCM technique, a second previously undetected alteration was identified in exon 10 where the change from TCA to CCA at codon 349 altered the amino acid from serine to arginine. Judicious choice of probes gives the CCM method the potential to detect close to 100% of single base mutations.

PMID:: 2063869; [PubMed - indexed for MEDLINE]
PMCID:: PMC1683212

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Research Support, Non-U.S. Gov't

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Phenylalanine Hydroxylase

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