| 葡萄糖-6-磷酸脱氢酶eDNA1311C→T复合11内含子93T→C突变 |
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| 引用本文： | 于国龙,蒋玮莹,杜传书,林群娣,陈路明,田秋红,李舒刚,曾敬波.葡萄糖-6-磷酸脱氢酶eDNA1311C→T复合11内含子93T→C突变[J].中华血液学杂志,2004,25(10):610-612. |
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| 作者姓名： | 于国龙 蒋玮莹 杜传书 林群娣 陈路明 田秋红 李舒刚 曾敬波 |
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| 作者单位： | [1]中山大学中山医学院遗传学教研室，广州510080 [2]广东省兴宁市人民医院 |
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| 基金项目： | 广东省自然科学基金资助项目(990115);211重点项目基金资助项目(98A-11) |
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| 摘 要： | 目的 探讨葡萄糖-6-磷酸脱氢酶(G6PD)基因eDNA1311C→T复合11内含子93T→C的突变与G6PD缺乏的关系。方法 运用硝基四氮唑蓝纸片法筛查G6PD患，以定量法确诊，运用PCR-SSCP筛查11外显子异常的标本，以突变特异性扩增系统(ARMS)法鉴定1311C→T突变，DNA直接测序1311突变标本的11外显子和11内含子。结果 在12例1311突变的标本中，在11内含子的93位均发现有T→C突变。结论 eDNA1311C→T突变同时合并11内含子的93位T→C突变可能是G6PD缺乏患酶活性降低的原因。
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| 关 键 词： | 突变 葡萄糖-6-磷酸脱氢酶 G6PD缺乏 标本 患者 筛查 DNA 内含子 外显子 基因 |
| 修稿时间： | 2003年10月15 |
Complex mutations of 1311 C-->T in exon 11 and 93 T-->C in intron 11 in G6PD gene] |
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| Guo-long Yu,Wei-ying Jiang,Chuan-shu Du,Qun-di Lin,Lu-ming Chen,Qiu-hong Tian,Shu-gang Li,Jing-bo Zeng.Complex mutations of 1311 C-->T in exon 11 and 93 T-->C in intron 11 in G6PD gene][J].Chinese Journal of Hematology,2004,25(10):610-612. |
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| Authors: | Guo-long Yu Wei-ying Jiang Chuan-shu Du Qun-di Lin Lu-ming Chen Qiu-hong Tian Shu-gang Li Jing-bo Zeng |
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| Affiliation: | Department of Genetics, Medical School of Zhongshan University, Guangzhou 510080, China. |
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| Abstract: | OBJECTIVE: To investigate the relationship between complex 1311 mutation of C-->T in exon 11 and 93 T-->C in intron 11 of G6PD gene and the G6PD deficiency. METHODS: Using NBT paper strip method to screen and quantitative NBT method to confirm G6PD deficiency. PCR-SSCP technique was used to find the abnormal exon 11 and the amplification refractory mutation system (ARMS) to identify 1311 mutation, and DNA sequencing to identify the complex mutation at 1311 in exon 11 and 93 in intron 11. RESULTS: Abnormal band in exon 11 was found in 12 cases. DNA sequencing showed that they were 1311 mutation together with 93 mutation. CONCLUSION: This complex mutation may be the cause of reduced activity of G6PD enzyme. |
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