PMID:23271928

Citation	Zhou, YA, Ma, YX, Zhang, QB, Gao, WH, Liu, JP, Yang, JP, Zhang, GX, Zhang, XG and Yu, L (2012) Mutations of the phenylalanine hydroxylase gene in patients with phenylketonuria in Shanxi, China. Genet. Mol. Biol. 35:709-13
Abstract	The variation in mutations in exons 3, 6, 7, 11 and 12 of the phenylalanine hydroxylase (PAH) gene was investigated in 59 children with phenylketonuria (PKU) and 100 normal children. Three single nucleotide polymorphisms were detected by sequence analysis. The mutational frequencies of cDNA 696, cDNA 735 and cDNA 1155 in patients were 96.2%, 76.1% and 7.6%, respectively, whereas in healthy children the corresponding frequencies were 97.0%, 77.3% and 8.3%. In addition, 81 mutations accounted for 61.0% of the mutant alleles. R111X, H64 > TfsX9 and S70 del accounted for 5.1%, 0.8% and 0.8% mutation of alleles in exon 3, whereas EX6-96A > G accounted for 10.2% mutation of alleles in exon 6. R243Q had the highest incidence in exon 7 (12.7%), followed by Ivs7 + 2 T > A (5.1%) and T278I (2.5%). G247V, R252Q, L255S, R261Q and E280K accounted for 0.8% while Y356X and V399V accounted for 5.9% and 5.1%, respectively, in exon 11. R413P and A434D accounted for 5.9% and 2.5%, respectively, in exon 12. Seventy-two variant alleles accounted for the 16 mutations observed here. The mutation characteristics and distributions demonstrated that EX6-96A > G and R243Q were the hot regions for mutations in the PAH gene in Shanxi patients with PKU.
Links	PubMed PMC3526075 Online version:10.1590/S1415-47572012005000069
Keywords
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Annotations

Gene product	Qualifier	GO Term	Evidence Code	with/from	Aspect	Extension	Notes	Status
HUMAN:PH4H		GO:0006559: L-phenylalanine catabolic process	ECO:0000269:		P		the disruption oh phenylalanine hydroxylase is seen to cause PKU. Several gene mutations can be traced back to this problem	complete CACAO 6476

References

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