Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2013
[Mutational spectrum of phenylalanine hydroxylase gene and identification of novel mutations in patients with hyperphenylalaninemia in Jiangsu province].
Аннотация на английскомСтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Zhang Jing-jing, Sun Yun, Sun Yi-jun, Huang Mei-lian, Zhang Jin, Liang Xiao-wei, Jiang Tao, Xu Zheng-feng
Аннотация
OBJECTIVE: To study the characteristics of phenylalanine hydroxylase (PAH) gene mutations in patients with hyperphenylalaninemia from Jiangsu province by DNA sequencing, and to analyze the spectrum of PAH gene mutations.
METHODS: A total of 70 patients and their parents were included in this study. All of the 13 exons and flanking introns of the PAH gene were analyzed with DNA sequencing.
RESULTS: Forty five types of mutations were identified, which included 4 novel mutations (L37P, H107R, Q267L, S391T). A total of 125 mutations were identified in 140 alleles (89.3%). All mutations were detected in exons 2-3, 5-7, 9-12 and introns 2, 4, 7 and 8. Most mutations were found in exons 6, 7 and 12. EX6-96A > G, R243Q and R241C were the most common mutations.
CONCLUSION: The mutational spectrum of Jiangsu province seems to be different from other regions. The spectrum can offer reliable information for genetic diagnosis of patients with hyperphenylalaninemia.
METHODS: A total of 70 patients and their parents were included in this study. All of the 13 exons and flanking introns of the PAH gene were analyzed with DNA sequencing.
RESULTS: Forty five types of mutations were identified, which included 4 novel mutations (L37P, H107R, Q267L, S391T). A total of 125 mutations were identified in 140 alleles (89.3%). All mutations were detected in exons 2-3, 5-7, 9-12 and introns 2, 4, 7 and 8. Most mutations were found in exons 6, 7 and 12. EX6-96A > G, R243Q and R241C were the most common mutations.
CONCLUSION: The mutational spectrum of Jiangsu province seems to be different from other regions. The spectrum can offer reliable information for genetic diagnosis of patients with hyperphenylalaninemia.