RT Journal Article
SR Electronic
T1 Molecular analysis of contiguous exons of the phenylalanine hydroxylase gene: identification of a new PKU mutation.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 228
OP 231
DO 10.1136/jmg.30.3.228
VO 30
IS 3
A1 I Dianzani
A1 C Camaschella
A1 G Saglio
A1 G B Ferrero
A1 S Ramus
A1 A Ponzone
A1 R G Cotton
YR 1993
UL http://jmg.bmj.com/content/30/3/228.abstract
AB 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.