Screening for mutations in the phenylalanine hydroxylase gene from Italian patients with phenylketonuria by using the chemical cleavage method: A new splice mutation

I. Dianzani, S. M. Forrest, C. Camaschella, G. Saglio, A. Ponzone, R. G H Cotton

Research output: Contribution to journalArticle

22 Citations (Scopus)

Abstract

To investigate the molecular basis of phenylketonuria in Italy we applied the chemical cleavage method (CCM) on amplified DNA encompassing exons 7 and 8 of the phenylalanine hydroxylase gene. These exons are in a region likely to be involved in enzyme function. Using this approach, we could simultaneously screen for novel mutations and for seven reported mutations which map in this area. Three mutations were identified. The first was shown to be a not previously described mutation: a G→A A substitution at the 5′ donor junction splice site of intron 7. The second change was a reported G→A mutation at codon 261. The third change corresponded to a polymorphism at codon 245. Our results indicate that CCM analysis of amplified genomic DNA fragments can be successfully used to search for mutations in large genes whose transcripts are not readily available.

Original languageEnglish
Pages (from-to)631-635
Number of pages5
JournalAmerican Journal of Human Genetics
Volume48
Issue number3
Publication statusPublished - Mar 1991

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Phenylalanine Hydroxylase
Phenylketonurias
Mutation
Genes
Codon
Exons
RNA Splice Sites
DNA
Introns
Italy
Enzymes

ASJC Scopus subject areas

  • Genetics

Cite this

Screening for mutations in the phenylalanine hydroxylase gene from Italian patients with phenylketonuria by using the chemical cleavage method : A new splice mutation. / Dianzani, I.; Forrest, S. M.; Camaschella, C.; Saglio, G.; Ponzone, A.; Cotton, R. G H.

In: American Journal of Human Genetics, Vol. 48, No. 3, 03.1991, p. 631-635.

Research output: Contribution to journalArticle

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