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| 苯丙氨酸羟化酶基因的六种新型突变 | |
| 引用本文： | 张誌,何蕴韶,彭书新,王芳花,江剑辉,金仁晶,程钢,徐杰. 苯丙氨酸羟化酶基因的六种新型突变[J]. 中华医学遗传学杂志, 2004, 21(4): 305-308 |
| 作者姓名： | 张誌 何蕴韶 彭书新 王芳花 江剑辉 金仁晶 程钢 徐杰 |
| 作者单位： | 1. 510080,广州,中山大学中山医学院人体解剖学教研室 2. 山东临沂市妇幼保健院 3. 广州市妇婴医院 4. 510080,广州,中山大学中山医学院达安基因诊断中心 |
| 摘 要： | 目的 检测中国苯丙酮尿症 ( phenylketonuria ,PKU )患者苯丙氨酸羟化酶 (phenylalaninehy droxylase ,PAH)基因新的突变位点。 方法 应用聚合酶链反应 单链构象多态性及DNA直接测序检测 40例经典型PKU患者和 3 0名正常对照的PAH基因。结果 在PAH基因上共发现 11种突变和 3种多态 ,3 0名正常对照者PAH基因未发现异常。结论 经与国际PAH基因突变数据库比较 ,确认M 2 76K、M 2 76R、2 80insT、IVS10nt 3 2T→A、IVS4nt 4 7C→T是国际上首次发现的突变 ,H 2 90R是中国PKU患者基因上首次发现的新型突变。 |
| 关 键 词： | 苯丙酮尿症 苯丙氨酸羟化酶 基因突变 |
| 修稿时间： | 2003-10-20 |
Six novel mutations in PAH gene detected by sequencing |
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| ZHANGZhi,HE Yun-shao,PENG Shu-xin,WANG Fang-hua,JIANG Jian-hui,JING Ren-jing,CHENG Gang,XU Jie.. Six novel mutations in PAH gene detected by sequencing[J]. Chinese journal of medical genetics, 2004, 21(4): 305-308 | |
| Authors: | ZHANGZhi HE Yun-shao PENG Shu-xin WANG Fang-hua JIANG Jian-hui JING Ren-jing CHENG Gang XU Jie. |
| Affiliation: | Department of Anatomy, Zhongshan Medical College, Sun Yat-sen University, Guangzhou, Guangdong, 510080 PR China. zhizhang@gzsums.edu.cn |
| Abstract: | OBJECTIVE: To explore new mutation in phenylalanine hydroxylase (PAH) gene. METHODS: The PAH genes from 40 phenylketonuria (PKU) patients and 30 normal controls were screened by PCR-single strand conformation polymorphism (SSCP) and further sequencing. RESULTS: Eleven mutations and 3 polymorphisms in PAH gene were found. No abnormalities in the PAH gene from 30 controls were detected. CONCLUSION: M276K, M276R, 280insT, IVS10nt+32T-->A, IVS4nt+47C-->T were demonstrated as novel mutations in comparison with the PAH mutation database. One mission mutation (H290R) was first documented in Chinese PKU gene. |
| Keywords: | phenylketonuria phenylalanine hydroxylase gene mutation |
| 本文献已被 CNKI 维普 万方数据 等数据库收录！ | |