Polymorphism and Sequencing Analysis of Mutations in Patients with Phenylketonuria
文献类型：期刊论文
| 作者 | Wang CY ; Zhang WY ; Pi ZF ; Liu ZQ ; Song FR ; Liu Y ; Li ZL |
| 刊名 | chinese journal of analytical chemistry
 |
| 出版日期 | 2011 |
| 卷号 | 39期号:12页码:1787-1792 |
| 关键词 | PHENYLALANINE-HYDROXYLASE GENE PAH GENE SPECTRUM CHINESE HYPERPHENYLALANINEMIA POPULATION DEFICIENCY PROVINCE |
| ISSN号 | 0253-3820 |
| 通讯作者 | pi zf |
| 中文摘要 | the mutations in exons 6 and 7 and the flanking intronic sequence of phenylalanine hydroxylase (pah) gene were detected by pcr/single strand conformation polymorphism (sscp) analysis and direct dna 35 pku patients. the characteristics of the 6 and exon 7 of pah gene mutation in patients with phenylketonuria (pku) in jilin were also investigated and discussed. the results suggested that: 0) nine different mutations were identified in 31/70 alleles (44. 2%). the most prevalent mutations were r243q (25. 7%) and ex6-96a>g (5.7%), followed by ivs7+ 2t>a (2. 9%), r241c (2. 9%), l242f (1. 4%), g247r (1. 4%), g247v (1. 4%), r261x (1. 4%) and r176x (1. 4%). (2) two polymorphism sites q232q (94. 3%) and v245v (67. 1%) were detected, which suggest that the ethnic diversity and area diversity exist in pah cdna sequence. the mutations of the pah gene in jilin were similar as that in other areas of china. there is identical with each high frequency of mutation and obvious difference with each other low frequency of mutation. |
| 收录类别 | SCI收录期刊论文 |
| 语种 | 中文 |
| WOS记录号 | WOS:000300598000002 |
| 公开日期 | 2012-06-07 |
| 源URL | [http://ir.ciac.jl.cn/handle/322003/44183]  |
| 专题 | 长春应用化学研究所_长春应用化学研究所知识产出_期刊论文 |
| 推荐引用方式 GB/T 7714 | Wang CY,Zhang WY,Pi ZF,et al. Polymorphism and Sequencing Analysis of Mutations in Patients with Phenylketonuria[J]. chinese journal of analytical chemistry,2011,39(12):1787-1792. |
| APA | Wang CY.,Zhang WY.,Pi ZF.,Liu ZQ.,Song FR.,...&Li ZL.(2011).Polymorphism and Sequencing Analysis of Mutations in Patients with Phenylketonuria.chinese journal of analytical chemistry,39(12),1787-1792. |
| MLA | Wang CY,et al."Polymorphism and Sequencing Analysis of Mutations in Patients with Phenylketonuria".chinese journal of analytical chemistry 39.12(2011):1787-1792. |
入库方式： OAI收割
来源：长春应用化学研究所
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