✦ LIBER ✦

Frequency and distribution of phenylketonuric mutations in orientals

✍ Scribed by Yoshiyuki Okano; Yutaka Hase; Dong-Hwan Lee; Jun-Ichi Furuyama; Haruo Shintaku; Toskiaki Oura; Gen Isshiki

Publisher: John Wiley and Sons
Year: 1992
Tongue: English
Weight: 426 KB
Volume: 1
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.1380010307

No coin nor oath required. For personal study only.

✦ Synopsis

The frequency and distribution of eight mutations ( R l l lX, IVS4nt-1, Y204C, R243Q, IVS7nt-2, W326X, Y356X, and R413P) in the phenylalanine hydroxylase gene of Orientals in Japan and Korea were examined by allele-specific oligonucleotide hybridization. The mutant alleles comprised 54 and 550/0 of the phenylketonuria (PKU) chromosomes examined in 36 patients in Japan and 10 patients in Korea, respectively. The spectrum of PKU mutations in Japan was similar to that in China, particularly in northern China, but different from that in Korea. The IVS4nt-1 mutation had a high frequency in Korea and southern China, due to the result of the founder effect and genetic drift. The R413P mutation, which may have originated in the regions surrounding the Baikal, expanded to northern China and Japan. We did not find Caucasian mutations in the Japanese or Korean PKU chromosomes. Thus, PKU mutations occurred after racial divergence between Caucasians and Mongoloids, and there were different founding populations for PKU in the two populations. o 1992 WiIey-Liss, Inc.

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