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Identification of a missense phenylketonuria mutation at codon 408 in Chinese

✍ Scribed by Chun-Hung Lin; Kwang-Jen Hsiao; Ting-Fen Tsai; Hung-Kun Chao; Tsung-Sheng Su

Publisher: Springer
Year: 1992
Tongue: English
Weight: 455 KB
Volume: 89
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00221944

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✦ Synopsis

A single base transition of G to A at codon 408 of the phenylalanine hydroxylase gene is identified. This missense mutation results in the substitution of Arg408 for Gln408 (R408Q) and accounts for about 5% of phenylketonuria (PKU) chromosomes among Chinese. This mutation is in linkage disequilibrium with restriction fragment length polymorphism haplotype 4. In addition, another mutation (R408W), at the same codon and prevalent on haplotype 2 PKU chromosomes in Caucasians, is identified in a PKU allele of haplotype 41. Previously, this mutation has been observed on a haplotype 44 background in Chinese PKU patients.

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