Phenylketonuria mutations in Northern China
โ Scribed by Fang Song; Yu-jin Qu; Ting Zhang; Yu-wei Jin; Hong Wang; Xiao-ying Zheng
- Book ID
- 116987735
- Publisher
- Elsevier Science
- Year
- 2005
- Tongue
- English
- Weight
- 311 KB
- Volume
- 86
- Category
- Article
- ISSN
- 1096-7192
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๐ SIMILAR VOLUMES
Phenylketonuria (PKU) is heterogeneous. More than 400 different mutations in the phenylalanine hydroxylase (PAH) gene have been identified. In a systematic review of the molecular genetics of PKU in Europe we identified 29 mutations that may be regarded as prevalent in European populations. Comprehe
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
U p to 10% of newborn children with a positive Guthrie test have non-phenylketonuria hyperphenylalaninaemia, i.e., mild elevation of serum phenylalanine that does not require dietary treatment. Depending on the relative frequencies of different phenylalanine hydroxylase mutations in a particular pop