Mutation analysis of the phenylalanine hydroxylase gene using heteroduplex analysis with synthetic DNA constructs |
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| Authors: | LA Tyfield A Stephenson JL Bidwell NAP Wood F Cockburn A Harvie I Smith |
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| Affiliation: | Department of Clinical Chemistry, London UK;Southmead Hospital, Department of Transplantation Sciences, London UK;University of Bristol, Bristol, Royal Hospital for Sick Children, London UK;Yorkhill, Glasgow and Institute of Child Health, London UK |
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| Abstract: | Using heteroduplex analysis generated with synthetic PCR-amplifiable DNA we have screened the PKU populations of southwest England and Wales, western Scotland, and southeast and central England for mutations in exons 3, 7 and 12 of the phenylalanine hydroxylase (PAH) gene. The technique characterized three mutations in exon 12, two in exon 3 and five in exon 7. Altogether over 370 PKU chromosomes were screened. In all geographical regions exon 12 mutations (R408W, IVS12ntlg- > a and Y414C) accounted for about 40% of mutant chromosomes. Exon 3 mutations (principally I65T) were found on between 9 and 12% of mutant alleles and exon 7 mutations accounted for a further 5-7%. Heteroduplex analysis is rapid, simple and safe and three constructs covering three exons can identify between 55 and 60% of mutations in various PKU populations of the UK. |
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