高苯丙氨酸血症
苯丙氨酸羟化酶
外显子
遗传学
基因
内含子
突变
生物
DNA测序
基因突变
等位基因
苯丙氨酸
氨基酸
作者
Jingjing Zhang,Yun Sun,Yu Sun,Ming‐De Huang,Jin Zhang,Xiaowei Liang,Tao Jiang,Zhengfeng Xu
出处
期刊:PubMed
日期:2013-10-01
卷期号:30 (5): 513-7
标识
DOI:10.3760/cma.j.issn.1003-9406.2013.05.002
摘要
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.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.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.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.
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