Genome-wide Analysis of Glucose-6-phosphate Dehydrogenase(G6PDH) and Its Evolution in Eucalyptus grandsis

[Objective] The aim of this study was to perform genome-wide analysis of glucose-6-phosphate dehydrogenase（G6PDH） and reveal its evolution in Eucalyptus grandsis.[Method] The gene character,protein sequence and phylogenetic tree of G6PDH gene were analyzed by BLAST and other bioinformatics software within Eucalyptus grandsis whole genome database.[Result] Six G6PDH genes,including one cytomic type and five plastids,were detected in the E.grandsis genome.All the G6PDHs have conserved motifs of motif 1,motif 2,motif 3,motif 7,motif 9 and motif 11.Furthermore,promoter sequences of all E.grandsis G6PDH contain TATA box,enhancer,light-responsive,hormone-responsive and stress-responsive regulatory elements.[Conclusion] This study provided reference for the further revealing molecular function of E.grandsis G6PDH gene family

High Level Expression of Glucose-6-phosphate Dehydrogenase Gene PsG6PDH from Populus suaveolens in E. coli

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.

Cloning and Sequence Analysis of a Glucose-6-Phosphate Dehydrogenase Gene PsG6PDH from Freezing-tolerant Populus suaveolens

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.

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

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.

Involvement of the circular RNA/microRNA/glucose-6-phosphate dehydrogenase axis in the pathological mechanism of hepatocellular carcinoma

Hepatocellular carcinoma(HCC)is the third most common cause of cancer-related death worldwide with high mortality.The incidence of HCC is increasing in China.Abnormal activation of glucose-6-phosphate dehydrogenase(G6 PD)exists in all malignant tumors,including HCC,and is closely related to the development of HCC.In addition,the differential expression of non-coding RNAs is closely related to the development of HCC.This systematic review focuses on the relationship between G6 PD,HCC,and noncoding RNA,which form the basis for the circ RNA/mi RNA/G6 PD axis in HCC.The circular RNA(circ RNA)/micro RNA(mi RNA)/G6 PD axis is involved in development of HCC.We proposed that non-coding RNA molecules of the circ RNA/mi RNA/G6 PD axis may be novel biomarkers for the pathological diagnosis,prognosis,and targeted therapy of HCC.

Prevalence of Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency in India: A Systematic Review

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.

Purification and Characterization of Glucose-6-Phosphate Dehydrogenase from Pigeon Pea (Cajanus cajan) Seeds

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.

Glucose-6-phosphate dehydrogenase(G6PD) deficiency is associated with asymptomatic malaria in a rural community in Burkina Faso

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.

Is there any role of glucose-6-phosphate dehydrogenase in obesity induced metabolic disorder

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.

Biochemical Estimation of Glucose 6 Phosphate Dehydrogenase Deficiency in Saudi Adults: Different Methods and Its Rationalization

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.

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

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.

A diagnostic kit to screen individuals with glucose-6-phosphate dehydrogenase defect and its application on anti-malaria spot in the countryside

Objective To prepare a kit for screening individuals with glucose 6 phosphate dehydrogenase (G6PD) defect. The kit is easy to use and to get the fast as well as reliable results. Especially it is suitable for the anti malaria spots usually located in the remote countryside where no electricity is available. Methods The double filter paper method and other 2 techniques, the quantitative method and the single filter paper method, were used to determine G6PD activity in 70 samples of human erythrocytes. It was found that the results of the double filter paper method and those of the single filter paper method in the first 8 hours after the drying of the blood soaked filter paper were consistent with those of the quantitative method. When a piece of blood soaked paper is left under room temperature more than 24 hours, G6PD in the erythrocytes deteriorated spontaneously and consequently the number of positive cases increased along with the elapse of time.Results Satisfactory results were achieved when the kit was used to screen cases of G6PD defect from 151 farmers who were receiving anti mararia therapy. The kit was made according to a technique named “double filter paper” method.Conclusions These findings suggest that the double filter paper method can reveal the level of G6PD activity and the results are rapidly obtained when the method is used on the anti malaria spot.

Alleviation of PEGylated Puerarin on Erythrocyte Hemolysis Induced by Puerarin in Glucose-6-phosphate Dehydrogenase-deficient Rats

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.

The fungal endophyte Epichloëgansuensis increases NaCltolerance in Achnatherum inebrians through enhancing the activity of plasma membrane H^(+)-ATPase and glucose-6-phosphate dehydrogenase

Salt stress negatively affects plant growth,and the fungal endophyte Epichloëgansuensis increases the tolerance of its host grass species,Achnatherum inebrians,to abiotic stresses.In this work,we first evaluated the effects of E.gansuensis on glucose-6-phosphate dehydrogenase(G6PDH)and plasma membrane(PM)H^(+)-ATPase activity of Achnatherum inebrians plants under varying NaCl concentrations.Our results showed that the presence of E.gansuensis increased G6PDH,PMH^(+)-ATPase,superoxide dismutase and catalase activity to decrease O2•^(–),H_(2)O_(2)and Na^(+)contents in A.inebrians under NaCl stress,resulting in enhanced salt tolerance.In addition,the PM NADPH oxidase activity and NADPH/NADP+ratios were all lower in A.inebrians with E.ganusensis plants than A.inebrians plants without this endophyte under NaCl stress.In conclusion,E.gansuensis has a positive role in improving host grass yield under NaCl stress by enhancing the activity of G6PDH and PM H^(+)-ATPase to decrease ROS content.This provides a new way for the selection of stress-resistant and high-quality forage varieties by the use of systemic fungal endophytes.

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

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。

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

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。

Comparisons of different methods of anesthesia and analgesia on the levels of glycometabolism rate-limiting enzymes in erythrocytes and plasma glucose and stress hormones in patients undergoing esophagus surgery

Objective： To compare the effects of different methods of anesthesia and analgesia on the activities of phosphofructokinase（PFK）, glucose-6-phosphate dehydrogenase（G-6PD） and aldose reductase（AR） in erythrocytes and levels of plasma glucose and stress hormones in patients undergoing esophagus surgery. Methods： Sixty-two patients scheduled for esophagus surgery were randomly divided into three groups： group Ⅰ （n = 20） receiving only general anesthesia（GA） followed by intravenous patient controlled analgesia（PCA） with fentanyl 15 μg/kg. The other two groups receiving both general anesthesia combined with thoracic epidural anesthesia （GEA） and either intravenous PCA with fentanyl 15 μg/kg （group Ⅱ, n = 21） or thoracic epidural analgesia（TEA） with 0.125% ropivacaine and 0.0002% fentanyl mixture（group Ⅲ, n = 21） after the operation. Venous blood samples were collected for measurements of PFK, G-rPD and AR activities in erythrocytes and plasma glucose, cortisol, epinephrine and norepinephrine before induction （T1）, 60 min following the incision （T2）, 60 min（T3） after operation, on the lst（T4） and 2nd postoperative day（T5）. Results： The activities of PFK decreased（P 〈 0.01 or P = 0.004） and the activities of G-6PD and AR increased（P 〈 0.01） in groups Ⅰ and Ⅱ on T4 compared with those on T1 Between the two groups, the activities of these enzymes in group Ⅱ changed less than those of group Ⅰ （P 〈 0.01 or P 〈 0.05）. These enzymes activities changed slightly in group Ⅲ on T4（P 〉 0.05）. There were significant differences between group Ⅲand the other two groups（P 〈 0.0l or P 〈 0.05）. The levels of plasma glucose increased significantly on T2（P 〈 0.01）, reached peak values on Ta（P 〈 0.01） and fell on T5 in the three groups. Compared to those of groups Ⅰ and Ⅱ, the values of plasma glucose in group Ⅲwere lower on T4 and T5（P 〈 0.05 or P 〈 0.01）. The cortisol concentration in each group increased significantly at T2（P 〈 0.01 or P 〈 0.05）, and remained elevated on T5（P 〈 0.01 or P 〈 0.05）, while on T2 and T3 the cortisol levels＇ of group I were higher than that of groups Ⅱand Ⅲ （P 〈 0.05）. The levels of group Ⅲ were lower than those of the other groups on T4 and T5（P 〈 0.01 or P 〈 0.05）. The levels of epinephrine and norepinephrine were also significantly higher in group Ⅰ than those of the other two groups on T2（P 〈 0.01 or P 〈 0.05）, and their levels in group Ⅰ and Ⅱ were higher than that of group Ⅲ on T4. The patients of the three groups obtained satisfactory pain relief, with all Vidual Analogue Scale（VAS） scores less than 3. VAS scores of group I were much greater 4h after operation. Group m VAS scores were the lowest 24h after operation. However, the number of times patients pressed the bolus switch was higher in group Ⅱ （P 〈 0.01）. Conclusion： Compared with GA and intravenous PCA, general anesthesia combined with thoracic epidural anesthesia and analgesia obtain better pain relief and could markedly alleviate the stress response and improve these erythrocyte glucose metabolism changes after esophagus surgery.

Phosphoglucose Isomerase Deficiency in <i>Escherichia coli</i>K-12 Is Associated with Increased Spontaneous Mutation Rate

Phosphoglucose isomerase (PGI) is a key enzyme in early glycolysis, which catalyzes the reversible isomerization of glucose 6-phosphate (G6Ph) to fructose 6-phosphate. We have constructed an Escherichia coli K12 strain with a deleted pgi gene (Δpgi) and shown that this strain in comparison with the parental strain 1) accumulates higher amount of G6Ph, 2) grows slowly, and 3) exhibits higher spontaneous mutation frequency to rifampicin resistance (Rifr), when grown on high glucose minimal medium. Intriguingly, the spontaneous mutation rate to Rifr was inversely related to the degree of E. coli chromosomal DNA modification with sugar derivatives. We measured higher concentrations of Amadori products, fluorophores (360 nm excitation/440 nm emission) and carboxymethyl residues in the chromosomal DNA of the E. coli parental strain than in DNA of the isogenic Δpgi strain. To explain this apparent paradox we hypothesized that PGI might be implicated in repair of G6Ph-derived lesions in DNA. In favor of our hypothesis, we further demonstrate that protein extract from the E. coli PGI proficient strain but not from the PGI deficient strain catalyzes the release of G6Ph from G6Ph-modified single stranded DNA oligonucleotide and from its hybrid duplex with a complementary peptide nucleic acid.

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

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。

超声心动图指标联合血清ARG1、G6PD在脓毒症患儿预后评估中的价值

目的探讨超声心动图指标联合血清重组人精氨酸酶1(ARG1)、葡萄糖-6-磷酸脱氢酶(G6PD)在脓毒症患儿预后评估中的价值。方法将2022年5月至2023年6月该院收治的116例脓毒症患儿纳入研究作为脓毒症组。根据脓毒症病情程度,将其进一步分为一般脓毒症组(52例)、严重脓毒症组(38例)和脓毒症休克组(26例),另根据患儿预后情况将脓毒症患儿分为预后良好组(84例)和预后不良组(32例)。选取同期于该院行体检的健康儿童116例纳入研究作为对照组。采用彩色多普勒超声仪对纳入研究者进行超声检查,检测受试者左心室射血分数(LVEF)、左室舒张末内径(LVEDD)、左室舒张末容积(LVEDV)及二尖瓣舒张早期血流峰值速度(E)。采用酶联免疫吸附法(ELISA)检测血清ARG1、G6PD水平。比较脓毒症组与对照组、不同病情程度及不同预后脓毒症患儿超声心动图指标及血清ARG1、G6PD水平。采用受试者工作特征曲线(ROC)分析超声心动图指标联合血清ARG1、G6PD对脓毒症患儿预后不良的预测价值。结果与对照组比较,脓毒症组患儿LVEF、E及G6PD水平降低(P<0.05),而LVEDD、LVEDV及ARG1升高(P<0.05)。随着脓毒症病情程度的加重,脓毒症患儿LVEF、E、G6PD水平逐渐降低(P<0.05),而LVEDD、LVEDV及ARG1水平逐渐升高(P<0.05)。预后不良组脓毒症患儿LVEF、E、G6PD水平低于预后良好组(P<0.05),LVEDD、LVEDV、ARG1水平高于预后良好组(P<0.05)。ROC曲线分析显示,超声心动图指标联合血清ARG1、G6PD预测脓毒症患儿预后不良的AUC为0.971,灵敏度和特异度分别为84.4%、83.2%。结论脓毒症患儿LVEF、E、G6PD水平明显降低,LVEDD、LVEDV、ARG1水平明显升高。超声心动图指标联合血清ARG1、G6PD对脓毒症患儿预后不良具有较高的预测价值。