TY - JOUR
T1 - Molecular analysis of contiguous exons of the phenylalanine hydroxylase gene
T2 - Identification of a new PKU mutation
AU - Dianzani, I.
AU - Camaschella, C.
AU - Saglio, G.
AU - Ferrero, G. B.
AU - Ramus, S.
AU - Ponzone, A.
AU - Cotton, R. G.H.
PY - 1993
Y1 - 1993
N2 - 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.
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.
UR - http://www.scopus.com/inward/record.url?scp=0027468586&partnerID=8YFLogxK
U2 - 10.1136/jmg.30.3.228
DO - 10.1136/jmg.30.3.228
M3 - Article
SN - 0022-2593
VL - 30
SP - 228
EP - 231
JO - Journal of Medical Genetics
JF - Journal of Medical Genetics
IS - 3
ER -