caa a22 4500 467983968 CHVBK 20180323112526.0 cr unu---uuuuu 170328e19900401xx s 000 0 eng 10.1007/BF00195810 doi (NATIONALLICENCE)springer-10.1007/BF00195810 Phenylketonuria mutation in Chinese haplotype 44 identical with haplotype 2 mutation in northern-European Caucasians [Elektronische Daten] [Ting-Fen Tsai, Kwang-Jen Hsiao, Tsung-Sheng Su] Summary: DNA amplification with the polymerase chain reaction was employed to identify the phenylketonuria (PKU) mutation in Chinese PKU families. The amplified DNA was hybridized with oligonucleotides corresponding to the two most common mutant alleles, i.e., mutations associated with PKU haplotype 2 and 3 among Caucasians of northern-European ancestry. The results of analysis demonstrate that the mutation in Chinese haplotype 44 is a single-base substitution corresponding to the mutation associated with haplotype 2 in Caucasians, whereas the mutations of the phenylalanine hydroxylase gene in haplotypes 4, 7, 11 and 28 among Chinese do not correlate with either of the two mutations identified in northern-European Caucasians. Springer-Verlag, 1990 Tsai Ting-Fen Department of Medical Research, Veterans General Hospital, National Yang-Ming Medical College, Taipei, Taiwan, Republic of China aut Hsiao Kwang-Jen Department of Medical Research, Veterans General Hospital, National Yang-Ming Medical College, Taipei, Taiwan, Republic of China aut Su Tsung-Sheng Department of Medical Research, Veterans General Hospital, National Yang-Ming Medical College, Taipei, Taiwan, Republic of China aut Human Genetics Springer-Verlag 84/5(1990-04-01), 409-411 0340-6717 84:5<409 1990 84 439 https://doi.org/10.1007/BF00195810 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00195810 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Tsai Ting-Fen Department of Medical Research, Veterans General Hospital, National Yang-Ming Medical College, Taipei, Taiwan, Republic of China aut NATIONALLICENCE 700 1- Hsiao Kwang-Jen Department of Medical Research, Veterans General Hospital, National Yang-Ming Medical College, Taipei, Taiwan, Republic of China aut NATIONALLICENCE 700 1- Su Tsung-Sheng Department of Medical Research, Veterans General Hospital, National Yang-Ming Medical College, Taipei, Taiwan, Republic of China aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 84/5(1990-04-01), 409-411 0340-6717 84:5<409 1990 84 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer