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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

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Science China(Life Sciences) 2007年第4期50卷 479-485页

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 1. Department of Biochemistry Faculty of Basic Medicine Kunming University of Medical Sciences Kunming 650031 China

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.

关键词： glucose-6-phosphate dehydrogenase deficiency Achang population G6PD Mahidol gene mutation Myanmar population

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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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Asian Pacific Journal of Tropical Biomedicine 2014年第8期4卷 655-658页

作者： Abdoul Karim Ouattara Cyrille Bisseye Bapio Valery Jean Télesphore Elvira Bazie Birama Diarra Tegwindé Rebeca Compaore Florencia Djigma Virginio Pietra Remy Moret Jacques Simpore Centre for Biomolecular Research Pietro Annigoni(CERBA) LABIOGENE UFR/SVT University of Ouagadougou BP 364 OuagadougouBurkina Faso Laboratory of Molecular and Cellular Biology(LABMC) University of Science and Technology of Masuku(USTM)BP 943 FrancerilleGabon

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 ***: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 ***:The prevalence of the G6 PD deficiency was 9.5%,in the study *** 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 *** falciparum asymptomatic parasitemia was significantly higher among the C6PD-non—deficient persons compared to the G6PD-deficient(P6PD—heterozygous females(P6 PD A- variant associated with protection against asymptomatic malaria in Burkina Faso is probably the most common deficient variant.

关键词： Polymerase chain reaction Mutations glucose-6-phosphate dehydrogenase deficiency Asymptomatic malaria Burkina Faso

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Is glucose-6-phosphate dehydrogenase deficiency more prevalent in Carrion's disease endemic areas in Latin America?

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Asian Pacific Journal of Tropical Medicine 2015年第12期8卷 1045-1046页

作者： Fernando Mazulis Claudia Weilg Carlos Alva-Urcia Maria J.Pons Juana del Valle Mendoza School of Medicine Research Center of the Health Sciences FacultyUniversidad Peruana de Ciencias Aplicadas(UPC)

glucose-6-phosphate dehydrogenase(G6PD) is a cytoplasmic enzyme with an important function in cell oxidative damage *** 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 *** overall G6 PDd allele frequency across malaria endemic countries is estimated to be 8%.corresponding to approximately 220 million males and 133 million ***,there are no reports on the prevalence of G6 PDd in Andean communities where bartonellosis is prevalent.

关键词： glucose-6-phosphate dehydrogenase G6PD Bartonella

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The diagnostic significance of glucose-6-phosphate isomerase (G6PI) antigen and anti-G6PI antibody in rheumatoid arthritis patients

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Advances in Bioscience and Biotechnology 2013年第8期4卷 818-822页

作者： Daren Yang Huinan Ge Jing Dong Xiongxiong Zhu Gang Sun Weiguo Ouyang Linhui Wang Guoxing Zhang Department of Clinical Laboratory Suzhou Chinese Traditional Medicine Hospital Suzhou China Department of Internal Medicine Suzhou Chinese Traditional Medicine Hospital Suzhou China Department of Physiology Medical College of Soochow University Suzhou China

Objective: To investigate whether glucose-6-phosphate isomerase (G6PI) antigen and anti-G6PI antibodies could be applied for the clinical diagnostic markers of rheumatoid arthritis (RA) and its associations with RA activity states. Methods: The levels of G6PI antigens and anti-G6PI Abs in sera from 176 RA patients in different states, 35 non-RA patients and 100 healthy donors and in synovia fluids from 33 patients and 11 non-RA patients were measured by ELISA. Results: The sensitivity and specificity of G6PI antigens in the RA patients were 75.0% and 93.3%, respectively. The levels of serum G6PI antigens in 176 RA patients were significantly higher than non-RA patients and the health controls. Especially, there was a significant difference between the active phase and the inactive phase in G6PI antigens levels. The levels of G6PI antigens in synovia fluid were also significantly higher in RA groups than in non-RA patients. With the values of the anti-G6PI Abs in sera, there were no marked differences among RA, non-RA patients and health controls. Also, there was no significant difference between the active phase and the inactive phase in RA patients. However, there were no significant differences of G6PI and anti-G6PI between RA patients and health controls in synovial fluid. Conclusions: G6PI is highly correlated with the activity states of RA, and could be applied for a clinical biomarker with high sensitivity and specificity for the diagnosis of RA.

关键词： glucose-6-phosphate Isomerase (G6PI) G6PI Antibody Rheumatoid Arthritis (RA)

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Prevalence of glucose-6-phosphate Dehydrogenase (G6PD) Deficiency in India: A Systematic Review

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Advances in Bioscience and Biotechnology 2018年第9期9卷 481-496页

作者： I. I. Shah J. Jarullah B. Jarullah Department of Biotechnology Kadi Sarva Vishwavidyalaya Gandhinagar India King Fahd Medical Research Center King Abdulaziz University Jeddah Saudi Arabia

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.

关键词： glucose-6-phosphate Dehydrogenase G6PD Deficiency India Prevalence

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Purification and Characterization of glucose-6-phosphate Dehydrogenase from Pigeon Pea (Cajanus cajan) Seeds

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Advances in Enzyme Research 2014年第4期2卷 134-149页

作者： Siddhartha Singh Pramod Kumar Srivastava Department of Biochemistry Faculty of Science Banaras Hindu University Varanasi India Department of Basic Science & Humanities College of Horticulture and Forestry Central Agricultural University Pasighat India

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°C and 40°C 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°C temperature.

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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Health 2012年第12期4卷 1530-1536页

作者： Manisha Sankhla Keerti Mathur Jai Singh Rathor Department of Physiology Mahatma Gandhi Medical College and Hospital Jaipur (Rajasthan) India Department of Physiology S.M.S. Medical College Jaipur (Rajasthan) India Medical Officer Primary Health Center Badhal (Rajasthan) India

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 6;p 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.

关键词： Obesity Abdominal Adiposity Oxidative Stress glucose-6-phosphate Dehydrogenase Adiponectin

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Metabolic properties of chicken embryonic stem cells

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Science China(Life Sciences) 2010年第9期53卷 1073-1084页

作者： LI Jia ZHANG BaoLu HAN HongBing CAO ZhiCheng LIAN ZhengXing LI Ning State Key Laboratory of Agrobiotechnology China Agricultural UniversityBeijing 100194China College of Animal Science&Technology China Agricultural UniversityBeijing 100194China

Cellular energy metabolism correlates with cell fate,but the metabolic properties of chicken embryonic stem (chES) cells are poorly *** a previously established chES cell model and electron microscopy (EM),we found that undifferentiated chES cells stored ***,undifferentiated chES cells expressed lower levels of glucose transporter 1 (GLUT1) and phosphofructokinase (PFK) mRNAs but higher levels of hexokinase 1 (HK1) and glycogen synthase (GYS) mRNAs compared with control primary chicken embryonic fibroblast (CEF) cells,suggesting that chES cells direct glucose flux towards the glycogenic ***,we demonstrated that undifferentiated chES cells block gluconeogenic outflow and impede the accumulation of glucose-6-phosphate (G6P) from this pathway,as evidenced by the barely detectable levels of pyruvate carboxylase (PCX) and mitochondrial phosphoenolpyruvate carboxykinase (PCK2) ***,cell death occurred in undifferentiated chES cells as shown by Hoechst 33342 and propidium iodide (PI) double staining,but it could be rescued by exogenous ***,we found that differentiated chES cells decreased the glycogen reserve through the use of PAS ***,differentiated chES cells expressed higher levels of GLUT1,HK1 and PFK mRNAs,while the level of GYS mRNA remained similar in control CEF *** data indicate that undifferentiated chES cells continue to synthesize glycogen from glucose at the expense of G6P,while differentiated chES cells have a decreased glycogen reserve,which suggests that the amount of glycogen is indicative of the chES cell state.

关键词： chicken embryonic stem cell energy metabolism glycogen cell fate glucose-6-phosphate

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Dual-Targeting of Arabidopsis 6-Phosphogluconolactonase 3 （PGL3）to Chloroplasts and Peroxisomes Involves Interaction with Trx m2 in the Cytosol

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Molecular Plant 2014年第1期7卷 252-255页

作者： Christian Holscher Tanja Meyer Antje von Schaewen Institut for Biologie und Biotechnologie der Pflanzen Westfalische Wilhelms-Universitat Munster Schlossgarten 3 48149 Munster Germany

The oxidative pentose-phosphate pathway （OPPP） represents a central branch of cellular metabolism emanating from glucose-6-phosphate （G6P） to provide reductive power （NADPH） and sugar phosphates for anabolic biosyntheses. In plant cells, the oxidative OPPP branch is found in the cytosol and in plastids, consisting of glucose-6-phosphate dehydrogenase （G6PD）, 6-phosphogluconolactonase （PGL）, and 6-phosphogluconate dehydrogenase （6PGD）. These enzymes are encoded by small gene families in the nuclear genome, which, in Arabidopsis, comprise six G6PD, five 6-PGL, and three 6-PGD isoforms （Kruger and von Schaewen, 2003）. Specific targeting motifs at the C-terminus of 6-PGL and 6-PGD isoforms suggested that the OPPP may also occur in peroxisomes （Reumann et al., 2004）.

关键词： Cytosol C-Terminus nuclear genome Plastid Peroxisomes 6-phosphogluconolactonase Gene families Plant cells chloroplasts glucosephosphate Dehydrogenase Dual glucose-6-phosphate Arabidopsis sugar phosphates

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The high incidence of acute hemolysis due to favism in Ahvaz,Iranclinical features and laboratory findings

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Asian Pacific Journal of Tropical Medicine 2010年第5期3卷 399-401页

作者： Seyyed Mohammad Hasan Aletayeb Bashir Chomeili Mehri Taheri Tahereh Ziaei Kajbaf Mehran Hakimzadeh Majid Aminzadeh Morteza Shojaei Moghadam Susan Maleki Neonatal Division Abouzar Hospital Pediatric Division Abouzar Hospital Pediatric Endocrinology Division Abouzar Hospital Faculty of Biotechnology and Biomolecular Sciences Universiti Putra Malaysia43400 UPM SerdangSelangorMalaysia Department of Biology School of SciencesShahid Chamran University

Objective:To collect comprehensive information about the features of favic patients in Ahvaz (Capital of Khouzestan,Iran) and analyze the extent of the differences with their corresponding in other ***:A total of 103 patients with acute hemolysis admitted to pediatric division of Abouzar Hospital located in the city of Ahvaz,Iran during 21st of June 2008 to 20th of June 2009 were analyzed ***:95.14% of the patients had favism while 4.86% of them underwent hemolysis due to other *** patients were male(68.93%) and female children(31.06%) admitted mostly during the spring *** three main symptoms were urine discoloration,jaundice and *** the admission time,the main hematologic findings were as follows:G6PD sufficient status(45.63%),G6PD deficient status(54.36%) and hemoglobin concentration:2.5-11.8(mean±SD:6.45±2.12) g/***:In conclusion,Ahvaz was determined as a black zone for favism in which the disease can be considered a life threatening health ***,slight differences were observed in the three main symptoms compared with favic patients in other regions.

关键词： Favism glucose-6-phosphate dehydrogenase Deficiency Ahvaz Clinical features Hemolytic anemia

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