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Molecular analysis of contiguous exons of the phenylalanine hydroxylase gene: identification of a new PKU mutation.

1993; BMJ; Volume: 30; Issue: 3 Linguagem: Inglês

10.1136/jmg.30.3.228

1468-6244

Irma Dianzani, Clara Camaschella, Giuseppe Saglio, Giovanni Battista Ferrero, Susan J. Ramus, A Ponzone, Richard G.H. Cotton,

Folate and B Vitamins Research

A modified application of the chemical cleavage of mismatch (CCM) method has been used to screen three contiguous exons (exons 9, 10, and 11) of the phenylalanine hydroxylase gene in 17 Italian PKU patients. A new nonsense heterozygous C-->G transversion within exon 11 (S359X) was identified in a single patient. Only one of the four mutations previously reported in this DNA region in Caucasians was found. This lesion, IVS X-546, was detected in five of the 34 PKU alleles examined. Our results underline the versatility of the CCM method for scanning a gene for multiple mutations.