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Frequency and distribution of phenylketonuric mutations in orientals
Author(s) -
Okano Yoshiyuki,
Hase Yutaka,
Lee DongHwan,
Furuyama JunIchi,
Shintaku Haruo,
Oura Toskiaki,
Isshiki Gen
Publication year - 1992
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.1380010307
Subject(s) - phenylalanine hydroxylase , genetics , biology , mutation , allele frequency , allele , founder effect , china , genetic divergence , phenylketonurias , gene , demography , population , phenylalanine , haplotype , genetic diversity , amino acid , sociology , political science , law
The frequency and distribution of eight mutations (R111X, 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 55% 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. © 1992 Wiley‐Liss, Inc.