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Characterization of glucose-6-phosphate dehydrogenase deficiency and identification of a novel haplotype 487G>A/IVS5-612(G>C) in the Achang population of southwestern China 被引量:6
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作者 YANG YinFeng, ZHU YueChun, LI DanYi, LI ZhiGang, Lü HuiRu, WU Jing, TANG Jing & TONG ShuFen Department of Biochemistry, Faculty of Basic Medicine, Kunming University of Medical Sciences, Kunming 650031, China These authors contributed equally to this work 《Science China(Life Sciences)》 SCIE CAS 2007年第4期479-485,共7页
The prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency and its gene mutations were studied in the Achang population from Lianghe County in Southwestern China. We found that 7.31% (19 of 260) males and 4... The prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency and its gene mutations were studied in the Achang population from Lianghe County in Southwestern China. We found that 7.31% (19 of 260) males and 4.35% (10 of 230) females had G6PD deficiency. The molecular analysis of G6PD gene exons 2―13 was performed by a PCR-DHPLC-Sequencing or PCR-Sequencing. Sixteen inde-pendent subjects with G6PD Mahidol (487G>A) and the new polymorphism IVS5-612 (G>C), which combined into a novel haplotype, were identified accounting for 84.2% (16/19). And 100% Achang G6PD Mahidol were linked to the IVS5-612 C. The percentage of G6PD Mahidol in the Achang group is close to that in the Myanmar population (91.3% 73/80), which implies that there are some gene flows between Achang and Myanmar populations. Interestingly, G6PD Canton (1376G>T) and G6PD Kaiping (1388G>A), which were the most common G6PD variants from other ethnic groups in China, were not found in this Achang group, suggesting that there are different G6PD mutation profiles in the Achang group and other ethnic groups in China. Our findings appear to be the first documented report on the G6PD genetics of the AChang people, which will provide important clues to the Achang ethnic group origin and will help prevention and treatment of malaria in this area. 展开更多
关键词 glucose-6-phosphate dehydrogenase deficiency ACHANG POPULATION G6PD Mahidol gene mutation Myanmar POPULATION
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湖南娄底地区新生儿黄疸葡萄糖-6-磷酸脱氢酶基因突变分析 被引量:11
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作者 杨紧根 《中国现代医学杂志》 CAS CSCD 北大核心 2014年第19期38-40,共3页
目的通过对湖南娄底地区新生黄疸患儿葡萄糖-6-磷酸脱氢酶(G6PD)酶活性及三种常见G6PD基因突变型(G1388A、G1376T和A95G基因)的分析,探讨G6PD缺乏与病理性黄疸之间的关系,了解本地区G6PD基因突变的分布情况。方法以G6PD/6PGD比值法检测G... 目的通过对湖南娄底地区新生黄疸患儿葡萄糖-6-磷酸脱氢酶(G6PD)酶活性及三种常见G6PD基因突变型(G1388A、G1376T和A95G基因)的分析,探讨G6PD缺乏与病理性黄疸之间的关系,了解本地区G6PD基因突变的分布情况。方法以G6PD/6PGD比值法检测G6PD酶活性和基因测序法检测G6PD基因突变为研究手段,对159例湖南娄底地区的病理性黄疸新生儿进行研究。结果 159例新生黄疸患儿中,G6PD基因突变发生率为26.42%,而G1388A、G1376T和A95G所占比例为27∶4∶11。其中在92例G6PD酶活性正常患儿中,检出3例G6PD基因突变女性杂合子;58例G6PD酶活性中度缺乏患儿中,检出30例G6PD基因突变女性杂合子;9例G6PD酶活性重度缺乏患儿中,检出7例G6PD基因突变男性半合子和2例女性纯合子。结论湖南娄底地区新生病理性黄疸患儿的G6PD基因缺乏率较高,及时准确的检测G6PD活性及基因型,对疾病的诊断和治疗具有重要的临床意义。 展开更多
关键词 葡萄糖-6-磷酸脱氢酶 黄疸 基因检测 基因突变
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