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In vitro and in vivo correlations for I65T and M1V mutations at the phenylalanine hydroxylase locus

✍ Scribed by Simon W. M. John; Charles R. Scriver; Rachel Laframboise; Rima Rozen

Publisher: John Wiley and Sons
Year: 1992
Tongue: English
Weight: 635 KB
Volume: 1
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.1380010210

No coin nor oath required. For personal study only.

✦ Synopsis

Communicated by Savio L. C. Woo Mutations at the phenylalanine hydroxylase (PAH) locus are the major cause of hyperphenylalaninemia. We have previously described four mutations (MlV, IVS12nt1, R408W, and S349P) at the PAH locus in French Canadians with ancestry in eastern Quebec. Here we report (1) identification of another mutation, on a haplotype 9 chromosome, which converts codon 65 from isoleucine (ATT) to threonine (ACT), (2) expression analysis of the I65T mutation in COS cells demonstrating 75% loss of both immunoreactive protein and enzyme activity, and (3) expression analysis of the most prevalent PKU allele (MlV) in eastern Quebec, showing nondetectable levels of PAH protein and activity, a finding compatible with a mutation in the translation initiation codon. Homozygosity for M1V and codominant inheritance of 165TR408W were both associated with classical phenylketonuria.

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