The bulletin of the Yamaguchi Medical School

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EISSN:2758-5441

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The bulletin of the Yamaguchi Medical School Volume 41 Issue 3-4
published_at 1994-12

Molecular Genetics of Phenylketonuria in East Asia

Molecular Genetics of Phenylketonuria in East Asia
Okano Yoshiyuki
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A020041000301.pdf
Descriptions
Phenylketonuria is a highly heterogeneous disorder for which more than 150 different mutations have been identified world wide. These mutations exhibit an association with restriction fragment-length polymorphism haplotypes at the phenylalanine hydroxylase gene. A population genetic study for phenylketonuria revealed that each mutation may have originated in different populations, spreading in prehistoric and/or posthistoric times with the founder effect, genetic drift, and bottleneck effect, and aose and/or accumulated after Asian and Caucasian peaple diverged. Missense mutations have been examined by in vitro expression analysis, and a significant correlation has been observed between residual phenylalanine hydroxylase activity and clinical phenotypes.
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