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Is glucose-6-phosphate dehydrogenase deficiency more prevalent in Carrion's disease endemic areas in Latin America? 被引量:2
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作者 Fernando Mazulis Claudia Weilg +2 位作者 Carlos Alva-Urcia Maria J.Pons Juana del Valle Mendoza 《Asian Pacific Journal of Tropical Medicine》 SCIE CAS 2015年第12期1045-1046,共2页
Glucose-6-phosphate dehydrogenase(G6PD) is a cytoplasmic enzyme with an important function in cell oxidative damage prevention.Erythrocytes have a predisposition towards oxidized environments due to their lack of mito... Glucose-6-phosphate dehydrogenase(G6PD) is a cytoplasmic enzyme with an important function in cell oxidative damage prevention.Erythrocytes have a predisposition towards oxidized environments due to their lack of mitochondria,giving G6 PD a major role in its stability.G6 PD deficiency(G6PDd) is the most common enzyme deficiency in humans:it affects approximately 400 million individuals worldwide.The overall G6 PDd allele frequency across malaria endemic countries is estimated to be 8%.corresponding to approximately 220 million males and 133 million females.However,there are no reports on the prevalence of G6 PDd in Andean communities where bartonellosis is prevalent. 展开更多
关键词 glucose-6-phosphate dehydrogenase G6PD BARTONELLA
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Prevalence of Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency in India: A Systematic Review 被引量:3
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作者 I. I. Shah J. Jarullah B. Jarullah 《Advances in Bioscience and Biotechnology》 2018年第9期481-496,共16页
Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency is the most common enzyme deficiency of human erythrocyte affecting more than 400 million people worldwide. In India, G6PD deficiency was first reported in 1963 and ... Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency is the most common enzyme deficiency of human erythrocyte affecting more than 400 million people worldwide. In India, G6PD deficiency was first reported in 1963 and since then various investigations have been conducted across country. The objective of this work was to study the prevalence of G6PD deficiency in different ethnic, caste and linguistic groups of Indian population. A systematic search of published literature was undertaken and the wide variability of G6PD deficiency has been observed ranging from 0% - 30.7% among the different caste, ethnic, and linguistic groups of India. It was observed that the incidence of G6PD deficiency was found to be considerably higher among the tribes (9.86%) as compared to other ethnic groups (7.34%) and significantly higher in males as compared to females. 展开更多
关键词 glucose-6-phosphate dehydrogenase G6PD deficiency INDIA PREVALENCE
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Glucose-6-phosphate dehydrogenase(G6PD) deficiency is associated with asymptomatic malaria in a rural community in Burkina Faso
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作者 Abdoul Karim Ouattara Cyrille Bisseye +6 位作者 Bapio Valery Jean Télesphore Elvira Bazie Birama Diarra Tegwindé Rebeca Compaore Florencia Djigma Virginio Pietra Remy Moret Jacques Simpore 《Asian Pacific Journal of Tropical Biomedicine》 SCIE CAS 2014年第8期655-658,共4页
Objective:To investigate 4 combinations of mutations responsible for glucose-6—phosphate dehydrogenase(G6PD) deficiency in a rural community of Burkina Faso,a malaria endemic country.Methods:Two hundred individuals i... Objective:To investigate 4 combinations of mutations responsible for glucose-6—phosphate dehydrogenase(G6PD) deficiency in a rural community of Burkina Faso,a malaria endemic country.Methods:Two hundred individuals in a rural community were genotyped for the mutations A376 G.G202A,A542 T,G680T and T968 C using TaqMan single nucleotide polymorphism assays and polymerase chain reaction followed by restriction fragment length polymorphism.Results:The prevalence of the G6 PD deficiency was 9.5%,in the study population.It was significantly higher in men compared to women(14.23%vs 6.0%,P=0.049).The 202A/376 G G6PD Awas the only deficient variant detected.Plasmodium falciparum asymptomatic parasitemia was significantly higher among the C6PD-non—deficient persons compared to the G6PD-deficient(P<0.001).The asymptomatic parasitemia was also significantly higher among G(SPI) nondeficient compared to C6PD—heterozygous females(P<0.001).Conclusions:This study showed that the G6 PD A- variant associated with protection against asymptomatic malaria in Burkina Faso is probably the most common deficient variant. 展开更多
关键词 Polymerase chain reaction Mutations glucose-6-phosphate dehydrogenase deficiency ASYMPTOMATIC MALARIA Burkina Faso
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Biochemical Estimation of Glucose 6 Phosphate Dehydrogenase Deficiency in Saudi Adults: Different Methods and Its Rationalization
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作者 Jummanah Jarullah Soad AlJaouni +1 位作者 Mahesh C. Sharma Bushra M. S. Jarullah 《Advances in Bioscience and Biotechnology》 2014年第5期434-437,共4页
Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzymopathy affecting 400 million people, globally. G6PD deficiency is an X-linked genetic condition, which is more likely to af... Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzymopathy affecting 400 million people, globally. G6PD deficiency is an X-linked genetic condition, which is more likely to affect males than females. Heterozygous females go undetected in a commonly used method. The aim of the study was to identify & rationalize different biochemical methods for detections of G6PD deficiency. Methods: Cross section retrospective study was conducted on 1584 (800 males, 784 females) blood samples collected from King Abdulaziz University Hospital (KAUH) and King Fahd Armed force hospital (KFAFH) in Jeddah, Western Saudi Arabia. Blood samples were screened for G6PD activity by fluorescence spot test, semi quantitative color reduction test and spectrometric quantitative evaluation. Hemoglobin (Hb) was measured on the same sample by BC-3200 Auto hematology Analyser. G6PD activity was recorded as U/g Hb. Samples identified as deficient with cutoff ≤4.6 U/gHb. Results: The prevalence of G6PD deficiency identified by fluorescence spot test was 73(4.6%) and all were deficient male. By semi quantitative method, the prevalence rate was 51(3.2%) and again all were male deficit patients. However, when quantitative spectrometric method was used, the prevalence was found in 90(5.7%), where in 73(4.6%) deficient patients were males and 17(1.1%) were females. Conclusion: Since the fluorescence spot test did not miss any G6PD deficient male, it should be restricted to males and quantitative test should be done on females. Each ethnic group should cultivate their own cutoff value for categorization of deficient patients. 展开更多
关键词 glucose 6 phosphate dehydrogenase Fluorescence SEMI-QUANTITATIVE & Quantitative
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High Level Expression of Glucose-6-phosphate Dehydrogenase Gene PsG6PDH from Populus suaveolens in E. coli 被引量:5
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作者 Lin Yuan-zhen Zhang Zhi-yi Lin Shan-zhi Zhang Qian Wang Xin 《Forestry Studies in China》 CAS 2005年第3期35-38,共4页
In order to investigate the functions of the gene PsG6PDH and the mechanisms underlying freezing tolerance of Populus suaveolens, the recombinant expression vector pET-G (pET30a-G6PDH), which contained full encoding... In order to investigate the functions of the gene PsG6PDH and the mechanisms underlying freezing tolerance of Populus suaveolens, the recombinant expression vector pET-G (pET30a-G6PDH), which contained full encoding region of PsG6PDH gene, was established. The recombinant was identified by lawn-PCR and double enzyme digestion and then transformed into expression host XA90 and induced by isopropyl-a-D-thiogalactoside (IPTG) to express 100 kD polypeptide of G6PDH fusion protein. The results showed that the expressed amount of the fusion protein culminated after 1 mmol·L^-1 IPTG treatment for 4h and that pET-G product was predominately soluble and not extra-cellular secreting. 展开更多
关键词 Populus suaveolens glucose 6-phosphate dehydrogenase PsG6PDH prokaryotic expression
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Cloning and Sequence Analysis of a Glucose-6-Phosphate Dehydrogenase Gene PsG6PDH from Freezing-tolerant Populus suaveolens 被引量:5
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作者 LinYuan-zhen LinShan-zhi ZhangWei ZhangQian ZhangZhi-yi GuoHuan LiuWen-feng 《Forestry Studies in China》 CAS 2005年第1期1-6,共6页
A 1 207 bp cDNA fragment (PsG6PDH) was amplified by RT-PCR from cold-induced total RNA of the freez- ing-tolerant P. Suaveolens, using primers based on the highly conserved region of published plant glucose-6-phospha... A 1 207 bp cDNA fragment (PsG6PDH) was amplified by RT-PCR from cold-induced total RNA of the freez- ing-tolerant P. Suaveolens, using primers based on the highly conserved region of published plant glucose-6-phosphate dehydro- genase (G6PDH) genes. The sequence analysis showed that PsG6PDH coding region had 1 101 bp and encoded 367 predicted amino acid residues. Moreover, the nucleotide sequence of PsG6PDH showed 83%, 82%, 79%, 79% and 78% identity, and the derived amino acid sequence shared 44.2%, 44.7%, 42.0%, 40.5% and 43.9% identity with those of the Solanum tuberosum, Nicotiana ta- bacum, Triticum aestivum, Oryza sativa and Arabidopsis thaliana, respectively. The results show that PsG6PDH is a new member of G6PDH gene family and belongs to the cytosolic G6PDH gene. This is the first report on cloning of the G6PDH gene from woody plants. 展开更多
关键词 Populus suaveolens freezing tolerance glucose-6-phosphate dehydrogenase PsG6PDH
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Purification and Characterization of Glucose-6-Phosphate Dehydrogenase from Pigeon Pea (Cajanus cajan) Seeds 被引量:1
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作者 Siddhartha Singh Pramod Kumar Srivastava 《Advances in Enzyme Research》 2014年第4期134-149,共16页
Glucose-6-phosphate dehydrogenase has been purified from pigeon pea (Cajanus cajan) seeds and subjected to characterization. The enzyme was purified 123.69 fold with a yield of 21.37% by ammonium sulphate fractionatio... Glucose-6-phosphate dehydrogenase has been purified from pigeon pea (Cajanus cajan) seeds and subjected to characterization. The enzyme was purified 123.69 fold with a yield of 21.37% by ammonium sulphate fractionation, PEG-4000 precipitation, CM cellulose column chromatography and DEAE cellulose column chromatography. The catalytically active enzyme is a dimer of 113 KDa with a subunit molecular weight of 55 KDa. Thermal inactivation of enzyme follows first order kinetics at 30&#176C and 40&#176C with half life of 6 and 1.5 min respectively. Km value for glucose-6-phosphate and NADP+ was found to be 2.68 mM and 0.75 mM respectively whereas Vmax value was found to be 0.11 U/mL and 0.13 U/mL respectively. The enzyme shows more affinity towards NADP+ than glucose-6-phosphate. The pKa value was found to be 10.41 indicating that the amino acid residue at active site might be lysine. The enzyme exhibited maximum catalytic activity at pH 8.2. The enzyme was found to be highly thermosensitive with gradual loss of activity above 30&#176C temperature. 展开更多
关键词 Purification Characterization Enzyme glucose-6-phosphate dehydrogenase PIGEON PEA
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Is there any role of glucose-6-phosphate dehydrogenase in obesity induced metabolic disorder
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作者 Manisha Sankhla Keerti Mathur Jai Singh Rathor 《Health》 2012年第12期1530-1536,共7页
The present study was designed to explore the possible mechanism of obesity associated metabolic syndrome. 150 subjects (120 men and 30 women) in the age-group of 17 - 26 years were studied. Body Mass Index and Waist-... The present study was designed to explore the possible mechanism of obesity associated metabolic syndrome. 150 subjects (120 men and 30 women) in the age-group of 17 - 26 years were studied. Body Mass Index and Waist-to-Hip Ratio were taken as a measure of generalized obesity and abdominal adiposity. The serum concentration of glucose-6-phosphate dehydrogenase increased with increasing levels of Body Mass Index and was found to be significant in obese subjects (Body Mass Index ≥ 30.0 kg/m2) and more so in the obese subjects with abdominal adiposity (p = 0.002) as compared to normal-weight subjects. Karl Pearson coefficient of correlation revealed a significant positive correlation of glucose-6-phosphate dehydrogenase with Body Mass Index (r = 0.499;p < 0.001) and malondialdehyde (a biomarker of oxidative stress) (r = 0.736;p < 0.001) but inverse correlation with adiponectin (r = -0.524;p < 0.001). Thus, we conclude that increased expression of glucose-6-phosphate dehydrogenase in obese subjects (more if it is associated with abdominal adiposity) might mediate the onset of obesity associated metabolic disorders by increasing oxidative stress. 展开更多
关键词 OBESITY ABDOMINAL ADIPOSITY Oxidative Stress glucose-6-phosphate dehydrogenase ADIPONECTIN
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肇庆市68308名新生儿葡萄糖-6-磷酸脱氢酶缺乏症筛查结果综合分析
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作者 胡雅 刘文晴 +1 位作者 温宝欣 李朝辉 《中国医学创新》 CAS 2024年第15期166-170,共5页
目的:分析肇庆市68308名新生儿的葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症筛查结果。方法:选取2021年1月—2022年12月在肇庆市出生的68308名新生儿为研究对象,采集全部新生儿的足跟血,以荧光分析法对G6PD缺乏症进行初筛,对可疑阳性者召回,采集... 目的:分析肇庆市68308名新生儿的葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症筛查结果。方法:选取2021年1月—2022年12月在肇庆市出生的68308名新生儿为研究对象,采集全部新生儿的足跟血,以荧光分析法对G6PD缺乏症进行初筛,对可疑阳性者召回,采集静脉血以连续监测法进行确诊。结果:2021年共筛查35610名,初筛阳性3580名,占比10.05%(3580/35610);2022年共筛查32698名,初筛阳性2983名,占比9.12%(2983/32698);6563例初筛阳性者,进行确诊检查,其中2021年确诊2585例,2022年确诊2153例,共确诊4738例G6PD缺乏症,确诊率为6.94%(4738/68308)。6563例初筛阳性者中,男5186例,女1377例;男婴初筛阳性中,共确诊3829例,确诊率为5.61%(3829/68308),女婴初筛阳性者中,共确诊909例,确诊率为1.33%(909/68308),男婴初筛阳性确诊率高于女婴初筛阳性确诊率,差异有统计学意义(χ^(2)=33.148,P<0.05);4738例G6PD缺乏症中,重度缺乏1130例,占比23.85%(1130/4738),中度缺乏1067例,占比22.52%(1067/4738),轻度缺乏2541例,占比53.63%(2541/4738)。结论:肇庆市68308名新生儿中,G6PD缺乏症以男婴为主,病情多为轻度缺乏。 展开更多
关键词 葡萄糖 -6- 磷酸脱氢酶缺乏症 新生儿 筛查
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LncRNA LBX2-AS1调节miR-873-5p/G6PD轴对胃癌细胞增殖迁移和侵袭的影响
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作者 王甜甜 温媛 +3 位作者 郭影 叶美红 李振 师振 《河北医学》 CAS 2024年第9期1488-1495,共8页
目的:探讨长链非编码RNA(LncRNA)瓢虫同源盒2反义RNA1(LBX2-AS1)调节微小RNA-873-5p(miR-873-5p)/葡萄糖-6-磷酸脱氢酶(G6PD)轴对胃癌(GC)细胞增殖、迁移和侵袭的影响。方法:以SGC7901细胞为研究对象,将其随机分为Control组、sh-NC组、s... 目的:探讨长链非编码RNA(LncRNA)瓢虫同源盒2反义RNA1(LBX2-AS1)调节微小RNA-873-5p(miR-873-5p)/葡萄糖-6-磷酸脱氢酶(G6PD)轴对胃癌(GC)细胞增殖、迁移和侵袭的影响。方法:以SGC7901细胞为研究对象,将其随机分为Control组、sh-NC组、sh-LBX2-AS1组、sh-LBX2-AS1+inhibitor-NC组、sh-LBX2-AS1+miR-873-5p inhibitor组;qRT-PCR法检测LncRNA LBX2-AS1、miR-873-5p、G6PD的表达;MTT法和平板克隆实验检测SGC7901细胞增殖;划痕实验检测SGC7901细胞迁移;Transwell实验检测SGC7901细胞的侵袭;Western blot检测SGC7901细胞中MMP-2、PCNA、MMP-9、G6PD蛋白表达;荧光素酶报告基因实验检测LncRNA LBX2-AS1与miR-873-5p,miR-873-5p与G6PD之间的相互作用;小鼠荷瘤实验验证敲除LncRNALBX2-AS1对CC肿瘤生长及G6PD表达的影响。结果:sh-LBX2-AS1组SGC7901细胞中A490值、克隆数、划痕愈合率、侵袭数、LncRNA LBX2-AS1、G6PD mRNA和PCNA、MMP-2、MMP-9蛋白表达低于sh-NC组、Control组,miR-873-5p表达高于sh-NC组、Control组(P<0.05);与sh-LBX2-AS1组、sh-LBX2-AS1+inhibitor-NC组相比,sh-LBX2-AS+miR-873-5p inhibitor组miR-873-5p表达降低,A490值、克隆数、划痕愈合率、侵袭数、G6PD mRNA和PCNA、MMP-2、MMP-9蛋白表达升高(P<0.05)。LncRNA LBX2-AS1靶向负调控miR-873-5p,miR-873-5p靶向负调控G6PD。实验组移植瘤质量、体积、Ki-67阳性率、G6PD阳性率低于对照组(P<0.05)。结论:敲除LncRNA LBX2-AS1可能抑制GC细胞的增殖、迁移和侵袭,其机制可能是调节miR-873-5p/G6PD轴实现的。 展开更多
关键词 长链非编码RNA 瓢虫同源盒2反义RNA1 微小RNA-873-5p 葡萄糖-6-磷酸脱氢酶(G6PD) 胃癌 增殖 迁移 侵袭
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115462例新生儿葡萄糖-6-磷酸脱氢酶缺乏症筛查及基因突变分析
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作者 张禾璇 杨雪 +4 位作者 王侣金 李林洁 张晓怡 刘兴宇 余蕾 《罕少疾病杂志》 2024年第2期115-117,共3页
目的了解贵阳地区葡萄糖-6-磷酸脱氢酶(glucose-6-phosphate dehydrogenase,G6PD)缺乏症发病情况和基因突变特点,为贵阳地区G6PD缺乏症的防治提供科学参考。方法募集该地区2020年8月至2023年1月出生的新生儿,应用荧光分析法对其血斑样... 目的了解贵阳地区葡萄糖-6-磷酸脱氢酶(glucose-6-phosphate dehydrogenase,G6PD)缺乏症发病情况和基因突变特点,为贵阳地区G6PD缺乏症的防治提供科学参考。方法募集该地区2020年8月至2023年1月出生的新生儿,应用荧光分析法对其血斑样本进行G6PD酶活性筛查,召回初筛阳性儿,完成G6PD酶活性诊断及多色探针荧光PCR熔解曲线法(Multicolor probe melting curve analysis method,MMCA)基因突变分析。结果共募集115462例新生儿,G6PD酶活性筛查血斑样本共筛出阳性1606例,筛查阳性率为1.39%(1606/115462),其中男性为1.83%(1130/61801)、女性0.89%(476/53661),男女新生儿G6PD酶活性初筛阳性率差异有统计学意义(P<0.01);召回初筛阳性患儿,G6PD基因突变检出率87.07%(909/1044),其中男性为90.09%(764/848),女性为73.98%(145/196),男女间G6PD基因突变检出率差异有统计学意义(P<0.01)。本研究共检出13种类型G6PD基因单一突变型(c.1024 G>T、c.1388 G>A、c.95 A>G、c.1376 G>T、c.592C>T、c.871 G>A、c.519 C>T、c.392G>T、c.493 A>G、c.1004C>A、c.1360C>T、c.383T>C、c.517T>C)和6种复合突变型(c.1376 G>T杂合复合c.95A>G杂合突变、c.1024 G>T杂合复合c.95A>G杂合突变、c.1024 C>T杂合复合c.1388 G>A杂合突变、c.1024 C>T杂合复合c.519C>T杂合突变、c.1376 G>T杂合复合c.1024 C>T杂合突变、c.95A>G杂合复合c.1388 G>A杂合突变)。贵阳地区G6PD缺乏症基因突变类型复杂多样,G6PD突变常见类型为c.1024 C>T、c.1388G>A、c.95 A>G、c.1376G>T这四种类型。结论贵阳地区G6PD基因突变位点具有明显地域性特征,开展G6PD酶活性筛查及相关诊断检测,有利于本地区G6PD缺乏症的筛查、确诊、治疗和防控,有效提高出生人口素质。 展开更多
关键词 葡萄糖-6-磷酸脱氢酶缺乏症 G6PD基因型 基因突变 多色探针熔解曲线分析法
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高胆红素血症新生儿血清G6PD、IGF-1水平与病情程度及听力损伤程度的关系
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作者 邓佳平 罗汉清 +1 位作者 汪茹 施芬 《疑难病杂志》 CAS 2024年第8期976-980,共5页
目的分析高胆红素血症新生儿血清葡萄糖-6-磷酸脱氢酶(G6PD)、胰岛素样生长因子-1(IGF-1)水平与病情程度及听力损伤程度的关系。方法选取2022年12月—2023年12月武汉市新洲区人民医院小儿内科收治的高胆红素血症新生儿102例的临床资料,... 目的分析高胆红素血症新生儿血清葡萄糖-6-磷酸脱氢酶(G6PD)、胰岛素样生长因子-1(IGF-1)水平与病情程度及听力损伤程度的关系。方法选取2022年12月—2023年12月武汉市新洲区人民医院小儿内科收治的高胆红素血症新生儿102例的临床资料,根据病情严重程度分为轻症组(n=41)、中症组(n=33)和重症组(n=28),采用ELISA法检测血清G6PD、IGF-1水平,采用Pearson法分析血清G6PD、IGF-1水平与患儿胆红素水平以及听力阈值之间的相关性;采用Logistic回归分析患儿听力损伤程度的影响因素;绘制受试者工作特征(ROC)曲线分析G6PD、IGF-1对患儿听力损伤程度的诊断价值。结果高胆红素血症中/重症组患儿的G6PD、IGF-1水平较轻症组患儿均显著降低(F/P=51.881/<0.001,42.334/<0.001),听力损伤中、重度亚组患儿的血清G6PD、IGF-1水平较轻度亚组显著降低(F/P=26.243/<0.001,22.454/<0.001);G6PD、IGF-1与患儿胆红素水平以及听力阈值均呈负相关(G6PD:r/P=-0.421/<0.001,-0.405/<0.001;IGF-1:r/P=-0.437/<0.001,-0.422/<0.001);血清G6PD、IGF-1及二者联合诊断患儿听力损伤程度的AUC分别为0.780、0.800、0.884,二者联合优于各自单独诊断价值(Z=2.905、2.109,P=0.004、0.035);胆红素、UCB升高是患儿听力损伤程度的独立危险因素[OR(95%CI)=1.354(1.111~1.650),1.157(1.022~1.309)],G6PD、IGF-1升高为患儿听力损伤程度的独立保护因素[OR(95%CI)=0.864(0.773~0.966),0.864(0.773~0.966)]。结论在高胆红素血症新生儿中,血清G6PD、IGF-1水平随病情程度加重显著降低,且两者对患儿听力损伤程度具有辅助诊断价值,是患儿听力损伤程度的影响因素。 展开更多
关键词 高胆红素血症 葡萄糖-6-磷酸脱氢酶 胰岛素样生长因子-1 病情程度 听力损伤 新生儿
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不同血片递送方式对汕头市新生儿葡萄糖-6-磷酸脱氢酶缺乏症检测结果的影响探讨
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作者 邱少汕 《黑龙江医学》 2024年第2期202-204,共3页
目的:了解汕头市不同血片递送方式对新生儿葡萄糖-6-磷酸脱氢酶(glucose-6-phosphate dehydrogenase,G6PD)缺乏症检测结果的影响。方法:选取2019年1月1日—2020年12月31日汕头市出生的126 249例新生儿作为研究对象。采集出生72 h并充分... 目的:了解汕头市不同血片递送方式对新生儿葡萄糖-6-磷酸脱氢酶(glucose-6-phosphate dehydrogenase,G6PD)缺乏症检测结果的影响。方法:选取2019年1月1日—2020年12月31日汕头市出生的126 249例新生儿作为研究对象。采集出生72 h并充分哺乳8次以上新生儿的足跟血,制作血滤纸干血片,按递送方式分为派专人递送标本组和普通快递递送标本组。采用荧光定量法测定G6PD,筛查阳性召回后采集末梢血,用G6PD/6PGD比值法进行确诊。结果:派专人递送标本组血片采血时间至收到时间的平均天数普通快递递送标本组明显缩短,差异有统计学意义(u=513,P<0.05)。普通快递递送标本组筛查阳性率明显高于派专人递送标本组,差异有统计学意义(χ^(2)=15.568,P<0.05)。普通快递递送标本组确诊率与派专人递送标本组比较,差异无统计学意义(χ^(2)=1.355,P>0.05)。结论:通过普通快递方式送达的标本G6PD筛查阳性率要明显高于通过派专人送标本方式的标本,通过普通快递方式送达的标本假阳性率高。 展开更多
关键词 新生儿筛查 葡萄糖-6-磷酸脱氢酶 血片递送
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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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贵阳地区新生儿G-6-PD缺乏症筛查及基因突变分析 被引量:2
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作者 李林洁 杨雪 +4 位作者 刘兴宇 张晓怡 张禾璇 王侣金 郑琳 《罕少疾病杂志》 2023年第3期90-92,共3页
目的分析贵阳地区出生人群葡萄糖-6-磷酸脱氢酶(G-6-PD)缺乏症筛查情况,了解本地区疾病的发生率以及基因突变情况,为指导新生儿疾病筛查工作提供策略依据。方法选取2020年9月-2021年12月期间送检贵阳市新生儿遗传代谢病筛查中心的干血... 目的分析贵阳地区出生人群葡萄糖-6-磷酸脱氢酶(G-6-PD)缺乏症筛查情况,了解本地区疾病的发生率以及基因突变情况,为指导新生儿疾病筛查工作提供策略依据。方法选取2020年9月-2021年12月期间送检贵阳市新生儿遗传代谢病筛查中心的干血斑样本,共计69537例(男37276例,女32261例),采用荧光定量法测定干血斑中的G-6-PD酶活性,筛查的可疑阳性新生儿召回使用基因突变分析及酶活性检测进行确诊。结果贵阳地区新生儿G-6-PD缺乏症筛查总体阳性率为1.37%(954/69537),其中男、女阳性率分别为1.81%(674/37276)和0.87%(280/32261),两者阳性率比较,差异具有统计学意义(χ^(2)=112.972,P<0.001);可疑阳性新生儿召回594例,召回率62.3%,确诊302例,推算贵阳地区新生儿G-6-PD缺乏症总体发生率为0.70%,345名新生儿中,检测出基因突变238例,共检出10种突变类型:90例(31.5%)c.1024C>T、64例(22.4%)c.1388G>A、52例(18.2%)c.95A>G、50例(17.5%)c.1376G>T、12例(4.2%)c.871G>A、8例(2.8%)c.487G>A、3例(1.0%)c.1004C>A、3例(1.0%)c.392G>T、2例(0.7%)c.592C>T、1例(0.3%)c.1360C>T和一种复合突变。结论贵阳地区最常见的五种G6PD基因突变为c.1024C>T、c.1388G>A、c.95A>G、c.1376G>T、c.871G>A,约占贵阳已鉴定致病等位基因的93.8%,G-6-PD缺乏症属于贵阳地区新生儿疾病筛查的高发病种之一,积极开展新生儿G-6-PD缺乏症筛查具有重要意义。 展开更多
关键词 G-6-PD缺乏症 新生儿疾病筛查 基因突变
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c.1365-13T>C和c.406C>T基因多态性与G6PD缺乏症发病风险的相关性研究
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作者 滕元姬 石凤 +3 位作者 凌永嫦 何丽桥 王春芳 王俊利 《中国实验血液学杂志》 CAS CSCD 北大核心 2023年第5期1455-1461,共7页
目的:探究广西人群G6PD基因c.1365-13T>C、c.406C>T位点遗传多态性与葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症发病风险的相关性,同时了解广西人群中这两个基因的携带和突变频率。方法:检测417例G6PD缺乏症患者和295例正常对照者的G6PD活... 目的:探究广西人群G6PD基因c.1365-13T>C、c.406C>T位点遗传多态性与葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症发病风险的相关性,同时了解广西人群中这两个基因的携带和突变频率。方法:检测417例G6PD缺乏症患者和295例正常对照者的G6PD活性水平及c.1365-13T>C、c.406C>T位点基因多态性,分析两位点基因型、等位基因与G6PD活性水平的相关性,并用在线SHEsis软件分析两位点单倍型分布频率。结果:c.1365-13T>C位点CC基因型(P=0.001,OR=2.684)和C等位基因(P=0.002,OR=1.681)在G6PD缺乏患者中的分布频率均明显低于对照组,显性模型TT+TC vs CC(P=0.001,OR=2.694)分布频率明显高于对照组。c.406C>T位点基因型及等位基因在G6PD缺乏患者和对照组中分布频率差异均无统计学意义(P>0.05)。单倍型分析结果显示,C-C、T-C和G6PD表达水平有显著相关性。G6PD缺乏患者中c.1365-13T>C TC基因型G6PD酶活性水平、MCV、MCH、MCHC平均值均明显大于TT基因型,RDW-CV平均值明显小于TT基因型;CC基因型G6PD酶活性水平明显低于TT基因型,MCV、MCH平均值均明显高于TT型(均P<0.05)。c.406C>T TT基因型患者的HCT、MCV、MCH、RDW-SD平均值均明显高于CC基因型(均P<0.05)。结论:G6PD c.1365-13T>C位点突变与G6PD活性水平降低存在相关性,值得进一步研究。 展开更多
关键词 G6PD缺乏症 基因多态性 发病风险 相关性研究
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Alleviation of PEGylated Puerarin on Erythrocyte Hemolysis Induced by Puerarin in Glucose-6-phosphate Dehydrogenase-deficient Rats 被引量:3
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作者 LIU Xin-yi LI Jian-rong +4 位作者 WANG Nai-jie ZHANG Guang-ping DU Feng YE Zu-guang XIANG Da-xiong 《Chinese Herbal Medicines》 CAS 2013年第1期47-52,共6页
Objective To explore and analyze the reducing hemolytic effects of PEGylated puerarin (PEG-PUE) on erythrocytes induced by PUE in glucose-6-phosphate dehydrogenase (G6PD)-deficient rats. Methods The rat model with G6P... Objective To explore and analyze the reducing hemolytic effects of PEGylated puerarin (PEG-PUE) on erythrocytes induced by PUE in glucose-6-phosphate dehydrogenase (G6PD)-deficient rats. Methods The rat model with G6PD-deficiency was established via sc injecting 1% acetylphenyl-hydrazine. Then the G6PD-deficient erythrocyte suspension obtained from this rat model was used to evaluate the hemolytic effects of PUE and the reducing hemolytic effects of PEG-PUE via hemolytic activity and erythrocyte osmotic fragility assay. Results It was found that PUE could cause a serious hemolysis to the erythrocyte suspension with the increase of drug concentration and the prolongation of drug incubation time, the hemolytic rate of PUE was up to 40%, while the addition of PEG-PUE to the erythrocyte suspension revealed no significant hemolysis. Additionally, the result of erythrocyte osmotic fragility indicated that PEG-PUE exerted a slight effect on the erythrocyte membranes, and the NaCl concentration that induced 50% hemolysis (32 mmol/L) was about one-third PUE. Conclusion These results demonstrate that PEG-PUE could play a significant role in reducing the side effect of hemolysis induced by PUE. The low hemolytic activity of PEG-PUE makes it a favorable candidate for in vivo tests and PEG-PUE could also provide the useful insight for the further formulation development as an innovative drug. 展开更多
关键词 erythrocyte osmotic fragility glucose-6-phosphate dehydrogenase-deficient rats hemolytic activity PEGylated puerarin PUERARIN
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血清AT-Ⅲ、G6PD检测对新生儿败血症早期诊断及预后评估的价值分析 被引量:5
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作者 陈明娟 冯琳 《蚌埠医学院学报》 CAS 2023年第2期174-177,共4页
目的:通过检测新生儿败血症患儿血清中的抗凝血酶-Ⅲ(AT-Ⅲ)、6-磷酸葡萄糖脱氢酶(G6PD)表达水平,分析其在新生儿败血症的早期诊断及与预后评估的价值。方法:选取2018年1月至2020年1月确诊的新生儿败血症患儿77例为败血症组,确诊的细菌... 目的:通过检测新生儿败血症患儿血清中的抗凝血酶-Ⅲ(AT-Ⅲ)、6-磷酸葡萄糖脱氢酶(G6PD)表达水平,分析其在新生儿败血症的早期诊断及与预后评估的价值。方法:选取2018年1月至2020年1月确诊的新生儿败血症患儿77例为败血症组,确诊的细菌感染非败血症患儿50例为感染组,同时选取健康新生儿100名为对照组。采用发色底物法检测血清AT-Ⅲ的表达水平,简易比色法检测血清中G6PD的表达水平,全自动生化分析仪测定被试者血清中降钙素原(PCT)、白细胞计数(WBC),记录新生儿疾病危重评分(NCIS评分)。比较败血症组、感染组、对照组以及败血症患儿生存组与病死组患儿血清中AT-Ⅲ、G6PD表达水平的差异。分析血清AT-Ⅲ、G6PD表达水平对新生儿败血症及病死的诊断价值,确定影响新生儿败血症患儿病死的危险因素。结果:与对照组相比,感染组、败血症组血清AT-Ⅲ、G6PD表达水平均显著降低,且败血症组血清AT-Ⅲ、G6PD表达水平低于感染组,差异均有统计学意义(P<0.01)。血清AT-Ⅲ、G6PD水平对新生儿败血症的早期诊断曲线下面积(AUC)分别为0.811(95%CI:0.748~0.874)、0.847(95%CI:0.788~0.905)。与生存组相比,病死组新生儿血清中PCT、WBC水平均显著升高,NCIS评分、血清中AT-Ⅲ及G6PD表达水平均显著降低,差异有统计学意义(P<0.05~P<0.01)。血清AT-Ⅲ、G6PD水平检测诊断新生儿败血症病死的AUC分别为0.791(95%CI:0.671~0.911)、0.800(95%CI:0.678~0.922)。logistic回归分析结果表明,AT-Ⅲ、G6PD表达水平的降低是新生儿败血症病死的危险因素。结论:血清AT-Ⅲ和G6PD表达水平升高与新生儿败血症的发病及其不良预后联系密切,对新生儿败血症早期鉴别及不良预后的评估具有一定的价值。 展开更多
关键词 新生儿败血症 抗凝血酶- 6-磷酸葡萄糖脱氢酶
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新生儿滤纸干血片自动打孔检测系统检测葡萄糖-6-磷酸脱氢酶的性能评价 被引量:1
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作者 谭玉华 潘晓芳 +5 位作者 李高成 余海枷 陈梅欣 谭港澳 梁天铖 冯健明 《医疗装备》 2023年第2期16-20,共5页
目的评价新生儿滤纸干血片自动打孔检测系统检测葡萄糖-6-磷酸脱氢酶(G6PD)的性能,并探讨在新生儿G6PD缺乏症筛查中的应用可行性。方法选取2020年12月至2021年7月来源于临床科研合作单位的104份新生儿滤纸干血片剩余样本,采用新生儿滤... 目的评价新生儿滤纸干血片自动打孔检测系统检测葡萄糖-6-磷酸脱氢酶(G6PD)的性能,并探讨在新生儿G6PD缺乏症筛查中的应用可行性。方法选取2020年12月至2021年7月来源于临床科研合作单位的104份新生儿滤纸干血片剩余样本,采用新生儿滤纸干血片自动打孔检测系统(简称自动打孔法)进行新生儿滤纸干血片G6PD检测,并对其检测低限、线性、准确度、精密度和一致性等性能指标进行评价,并与直接打孔法试验结果进行对比。结果自动打孔法检测G6PD的检测低限为0.29 U/gHb;在0.96~10.20 U/gHb范围内的样本,实测浓度与理论浓度的线性相关系数达0.9996,检测浓度与理论浓度的相对偏倚均在1/3允许总误差(±10%)内;检测质控品C1和C2的批内变异系数(CV)均在1/4允许总误差(小于7.5%)内,批间CV均在1/3允许总误差(小于10%)内;与直接打孔法平行检测临床样本的结果间差异无统计学意义(P>0.05),两种方法检测结果间具有高度相关性(r=0.9991,P<0.05),阳性判断值(2.50 U/gHb)预期偏倚的95%置信区间在可以接受范围内,采用Bland-Altman分析,两种方法有97.12%(101/104)的样本结果偏差在一致界限范围内。结论自动打孔法检测G6PD的检测低限、线性、准确度和精密度等性能指标均符合可接受标准,且自动打孔法与直接打孔法检测结果一致性良好,可用于新生儿滤纸干血片样本G6PD检测。 展开更多
关键词 新生儿 滤纸干血片 自动打孔法 葡萄糖-6-磷酸脱氢酶 性能评价
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葡萄糖-6-磷酸脱氢酶缺乏症溶血风险相关物质的研究进展 被引量:1
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作者 李津婴 宋洪杰 +2 位作者 李津杞 顾海慧 钱宝华 《中国药物警戒》 2023年第1期110-116,共7页
药物性溶血是葡萄糖-6-磷酸脱氢酶缺乏症(G6PDd)发生急性溶血的常见诱因之一,随着新药研发和面市,涉及G6PDd溶血的药物逐年增加。本文分类介绍对G6PDd有溶血风险的抗生素、抗病毒、抗肿瘤药物,解热镇痛消炎药,代谢类药物,扩血管药物,麻... 药物性溶血是葡萄糖-6-磷酸脱氢酶缺乏症(G6PDd)发生急性溶血的常见诱因之一,随着新药研发和面市,涉及G6PDd溶血的药物逐年增加。本文分类介绍对G6PDd有溶血风险的抗生素、抗病毒、抗肿瘤药物,解热镇痛消炎药,代谢类药物,扩血管药物,麻醉剂,解毒剂,其他药物,中草药、植物,外用药、试剂、化学品及食品,为临床医生治疗选择和病患警示预防提供参考。 展开更多
关键词 葡萄糖-6-磷酸脱氢酶缺乏症 溶血风险 高铁血红蛋白血症 药物 化学品 食物
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