Common mutations in G6PD of Vietnamese-Kinh deficient patients

Nguyen Thi Hue; Dang ThiLan Anh; Huynh Le Thao Trinh; Phan Ngo Hoang

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Common mutations in G6PD of Vietnamese-Kinh deficient patients

机译：越南-金氏缺乏症患者G6PD的常见突变

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This study was conducted to identify the common mutations occurring within theG6PD?gene in the G6PD - Vietnamese deficient patients, which may be the main causative mutations of the G6PD deficiency in Vietnamese-kinh. Sequencing was performed to detect mutations in the coding region of?G6PD?gene for 30 Vietnamese-Kinh G6PD deficient patients. Seven sets of primers were designed to amplify and sequenced 13 coding regions of?G6PD?gene. Seven known types of mutations were detected. Each patient had at least one mutation in his?G6PD?gene. The most common mutation is the silent mutation 1311C>T with frequency of 56.66%. With the high frequency, the 1311C>T mutations are suggested as potential markers for G6PD deficiency in Vietnamese-kinh population.

机译：这项研究的目的是确定在G6PD-越南缺乏患者中，G6PD？基因内发生的常见突变，这可能是越南族G6PD缺乏症的主要致病突变。进行测序以检测30名越南-Kinh G6PD缺陷患者的“G6PDβ”基因编码区的突变。设计七套引物以扩增和测序“ G6PD”基因的13个编码区。检测到七种已知类型的突变。每位患者的“ G6PD”基因至少有一个突变。最常见的突变是沉默突变1311C> T，频率为56.66％。在越南族人群中，建议将1311C> T突变作为高频信号，作为G6PD缺乏症的潜在标志。

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《African Journal of Biotechnology》 |2013年第12期|共8页
作者
Nguyen Thi Hue; Dang ThiLan Anh; Huynh Le Thao Trinh; Phan Ngo Hoang;
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中图分类生物工程学（生物技术）;
关键词
G6PD deficiencyVietnamese-Kinh1311CTViangchanCanton;

机译：G6PD缺乏症越南-Kinh1311C TViangchanCanton;

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专利

1. G6PD Canton a common deficient variant in South East Asia caused by a 459 Arg→Leu mutation [J] . Nucleic acids research . 1990,第23期

机译：G6PD广州是由459 Arg→Leu突变引起的东南亚常见缺陷变异
2. Glucose-6-phosphate dehydrogenase (G6PD) mutations in Cambodia: G6PD Viangchan (871G>A) is the most common variant in the Cambodian population. [J] . Matsuoka H, Nguon C, Kanbe T, Journal of human genetics . 2005,第9期

机译：柬埔寨的6-磷酸葡萄糖脱氢酶（G6PD）突变：G6PD Viangchan（871G> A）是柬埔寨人口中最常见的变异。
3. Glucose-6-phosphate dehydrogenase (G6PD) mutations in Myanmar: G6PD Mahidol (487G>A) is the most common variant in the Myanmar population. [J] . Matsuoka H, Wang J, Hirai M, Journal of human genetics . 2004,第10期

机译：缅甸的6-磷酸葡萄糖脱氢酶（G6PD）突变：G6PD Mahidol（487G> A）是缅甸人口中最常见的变异。
4. G6PD-MutDB: A MUTATION AND PHENOTYPE DATABASE OF GLUCOSE-6-PHOSPHATE (G6PD) DEFICIENCY [C] . XIN ZHAO, ZUOFENG LI, XIAOYAN ZHANG 21st International Conference on Genome Informatics. . 2010

机译：G6PD-MutDB：葡萄糖6-磷酸（G6PD）缺陷的突变表型数据库
5. Mutational analysis of the DNA helicase genes XPB, XPD, WRN and BLM in tumors with wild type p53 but deficient in p53 mediated apoptosis [D] . Gerrard, Bernard Charles. 2000

机译：野生型p53但缺乏p53介导的细胞凋亡的肿瘤中DNA解旋酶基因XPB，XPD，WRN和BLM的突变分析
6. G6PD Canton a common deficient variant in South East Asia caused by a 459 Arg----Leu mutation. [O] . D J Stevens, W Wanachiwanawin, P J Mason, 1990

机译：G6PD广州是由459 Arg ---- Leu突变引起的东南亚常见缺陷变异。
7. G6PD Canton a common deficient variant in South East Asia caused by a 459 Arg----Leu mutation. [O] . Stevens, D J, Wanachiwanawin, W, Mason, P J, 1990

机译：G6PD广州是由459 Arg ---- Leu突变引起的东南亚常见缺陷变异。

Common mutations in G6PD of Vietnamese-Kinh deficient patients

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