Mutations of the phenylalanine hydroxylase gene in patients with phenylketonuria in Shanxi, China
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, cDN...
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| Format: | Article |
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Sociedade Brasileira de Genética
2012-01-01
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| Series: | Genetics and Molecular Biology |
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| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000500001 |
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| author | Yong-An Zhou Yun-Xia Ma Quan-Bin Zhang Wei-Hua Gao Jian-Ping Liu Jian-Ping Yang Gai-Xiu Zhang Xiao-Gang Zhang Liang Yu |
| author_facet | Yong-An Zhou Yun-Xia Ma Quan-Bin Zhang Wei-Hua Gao Jian-Ping Liu Jian-Ping Yang Gai-Xiu Zhang Xiao-Gang Zhang Liang Yu |
| author_sort | Yong-An Zhou |
| collection | DOAJ |
| description | 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 +2T>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. |
| first_indexed | 2024-12-11T17:08:10Z |
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| id | doaj.art-75dd774ff1f14b3592a201feda3b599a |
| institution | Directory Open Access Journal |
| issn | 1415-4757 1678-4685 |
| language | English |
| last_indexed | 2024-12-11T17:08:10Z |
| publishDate | 2012-01-01 |
| publisher | Sociedade Brasileira de Genética |
| record_format | Article |
| series | Genetics and Molecular Biology |
| spelling | doaj.art-75dd774ff1f14b3592a201feda3b599a2022-12-22T00:57:37ZengSociedade Brasileira de GenéticaGenetics and Molecular Biology1415-47571678-46852012-01-01354709713Mutations of the phenylalanine hydroxylase gene in patients with phenylketonuria in Shanxi, ChinaYong-An ZhouYun-Xia MaQuan-Bin ZhangWei-Hua GaoJian-Ping LiuJian-Ping YangGai-Xiu ZhangXiao-Gang ZhangLiang YuThe 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 +2T>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.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000500001gene mutationphenylalanine hydroxylasephenylketonuria |
| spellingShingle | Yong-An Zhou Yun-Xia Ma Quan-Bin Zhang Wei-Hua Gao Jian-Ping Liu Jian-Ping Yang Gai-Xiu Zhang Xiao-Gang Zhang Liang Yu Mutations of the phenylalanine hydroxylase gene in patients with phenylketonuria in Shanxi, China Genetics and Molecular Biology gene mutation phenylalanine hydroxylase phenylketonuria |
| title | Mutations of the phenylalanine hydroxylase gene in patients with phenylketonuria in Shanxi, China |
| title_full | Mutations of the phenylalanine hydroxylase gene in patients with phenylketonuria in Shanxi, China |
| title_fullStr | Mutations of the phenylalanine hydroxylase gene in patients with phenylketonuria in Shanxi, China |
| title_full_unstemmed | Mutations of the phenylalanine hydroxylase gene in patients with phenylketonuria in Shanxi, China |
| title_short | Mutations of the phenylalanine hydroxylase gene in patients with phenylketonuria in Shanxi, China |
| title_sort | mutations of the phenylalanine hydroxylase gene in patients with phenylketonuria in shanxi china |
| topic | gene mutation phenylalanine hydroxylase phenylketonuria |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000500001 |
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