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[Genetic analysis of 36 children affected with phenylalanine hydroxylase deficiency from Fujian].

摘要:

To study the characteristics of phenylalanine hydroxylase gene (PAH) mutations in patients with PAH deficiency in Fujian population.Peripheral blood samples of 36 patients and their parents with classical type phenylketouria (PKU) were collected. Genomic DNA was extracted. Following PCR amplification, DNA sequencing was carried out to identify the origins of mutations.Twenty types mutations were identified in 63 of the 72 alleles. The most common mutations were R241C, R408Q and Ex6-96A>G, which respectively accounted for 15.9%, 12.7% and 11.1% of all mutant alleles. The c.189_190dupTGAC mutation was first reported. R241C was associated with 28% of mild hyperphenylalaninemia and R408Q is associated with 25% of classical PKU.There is a specific spectrum of PAH gene mutation in Fujian region. R241C, R408Q and Ex6-96A>G are the most common mutations.

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作者单位: Fujian Provincial Maternity and Child Health Care Hospital, Fujian Neonatal Screening Center, Fuzhou, Fujian 350001, P. R. China. hqchen_996@qq.com. [1]
期刊:
《Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics》 2015年32卷2期158-62页
DOI: 10.3760/cma.j.issn.1003-9406.2015.02.002
PMID: 25863076
发布时间: 2018-10-18
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