The mutation spectrum of the phenylalanine hydroxylase (PAH) gene and associated haplotypes reveal ethnic heterogeneity in the Taiwanese population.

[phenylketonuria]

Phenylalanine hydroxylase (PAH ) deficiency is responsible for most cases of phenylketonuria (PKU ). In this study of the PAH mutation spectrum in the Taiwanese population , 139 alleles were identified including 34 different mutations . The V 190 G , Q 267 R and F 3 92 I mutations are first reported in this study . The most common mutations , R 241 C , R 408 Q and Ex 6 -96 A >G , account for 23 .2 %, 12 .0 % and 9 .2 %, of the mutant alleles , respectively . Haplotype analysis shows that R 241 C and Ex 6 -96 A >G are exclusively associated with haplotype 4 .3 to suggest founder effects . On the other hand , R 408 Q is found on two distinct haplotypes suggesting recurrent mutations . The spectrum of PAH mutations in Taiwan shows various links to those of other Asian regions , yet remarkable differences exist . Notably , R 408 Q , E 286 K and -4173 _-407 del , accounting for 21 % of all mutant alleles in Taiwan , are very rare or are undetected among PKU cohorts of other Asian regions to suggest local founder effects . Moreover , the low homozygosity value of 0 .092 hints at a high degree of ethnic heterogeneity within the Taiwanese population . Our study of PAH mutation spectrum and the associated haplotypes is useful for subsequent study on the origin and migration pattern via Taiwan , an island at the historical crossroad of migration of ancient populations .

Diseases
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Diseases presenting "r241c" symptom

phenylketonuria

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