Molecular Genetics of Phenylketonuria in East Asia

Molecular Genetics of Phenylketonuria in East Asia

Creators Okano Yoshiyuki

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.

[ISSN]0513-1812

[NCID]AA00594272