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Molecular Genetics of Phenylketonuria in East Asia

The bulletin of the Yamaguchi Medical School Volume 41 Issue 3-4 Page 59-61
published_at 1994-12
A020041000301.pdf
[fulltext] 283 KB
Title
Molecular Genetics of Phenylketonuria in East Asia
Creators Okano Yoshiyuki
Source Identifiers
Creator Keywords
Rheumatoid arthritis Spine Neck pain Cervical myelopathy Subluxation of the spine
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.
Subjects
医学 ( Other)
Languages eng
Resource Type departmental bulletin paper
Publishers Yamaguchi University Graduate School of Medicine
Date Issued 1994-12
File Version Version of Record
Access Rights open access
Relations
[ISSN]0513-1812
[NCID]AA00594272
Schools 医学部