PubMed Health⌕ Search

SEARCH · PubMed Health

Results for “GLUCOSEPHOSPHATE DEHYDROGENASE”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 199 records · Page 11Linked to original sources
PubMed1998

[Expression and biochemical characterization of human G6PD gene 1376 and 1388 mutation in G6PD-deficient Escherichia coli].

Nine types of human G6PD gene mutated at the positions of nt 1376 and nt 1388 by site-directed mutagenesis were transformed into the strain of G6PD dificent E. coli HB 351(DE3). The mutated gene was expressed successfully and the enzyme kinetic studies undertaken according to WHO standardization. The results showed that the arginine residues at the positions of 459 and 463 of G6PD gene play an important role in maintaining activity of the enzyme. The amino acid structure, polarity, and electronic property may be responsible for it. The arginine residues at the positions of 459 and 463 are also important for the enzyme-NADP+ binding, but it was not interfered by the lysine-arginine substitution. By inducing a non-sense mutation, it was further demonstrated that the amino acids residueds behind the position of 459 were extremely significant for G6PD activity.

Escherichia coli↗
PubMed2000

1376G-->T mutation of G6PD gene in Han and Li nationalities in Hainan, China.

OBJECTIVE: To investigate the 1376G-->T mutation of G6PD gene in the cases of G6PD deficiency in the Han nationality and the Li nationality of Hainan, China. METHODS: DNAs were extracted from the white blood cells of G6PD deficient cases by salt-out method. Allelic specific polymerase chain reaction was used to detect the 1376G-->T mutation. RESULTS: Fifty-nine Han nationality cases and 32 Li nationality cases were analysed; the 1376G-->T mutation was found in 19 Han cases(32.2%) and 18 Li cases(56.2%). CONCLUSION: 1376G-->T is a common mutation which causes G6PD deficiency in the Han nationality and the Li nationality in Hainan, China. Based on the phylogenetic tree of populations in China, these results indicate that the mutation might occur prior to the divergence of the Han and Li nationalities. It is of significance to study the mutations of G6PD gene in different nationalities in China for elucidating the origin, migration and evolution of the nationalities.

Biological Evolution↗
PubMed1975

Hemoglobin E, an oxidatively unstable mutation.

When bloods from 3,159 individuals from the United States, Iran, Ethiopia, and South Vietnam were examined for erythrocytic enzyme deficiencies with a new test utilizing the visible reduction of 2,6-dichlorophenolindophenol by glutathione, gross turbidity was observed in 81 samples. All were from Southeast Asia and 78 contained hemoglobin E. The precipitation rates of various hemoglogins in hemolysates incubated with dichlorophenolindophenol were: Hb EE greater than Hb AE greater than other hemoglobins (A, S, C, D, A2, F, O-Arabia, Rush). Hemoglobin E is an oxidatively unstable hemoglobin, possibly with weakened alpha 1 beta 1 contact; it may result in increased susceptibility to oxidative hemolysis and can be simply detected and differentiated from both Hb C and Hb O-Arabia.

Blood Protein Electrophoresis↗
PubMed1999

[Detection of three common G6PD gene point mutations in Guangdong province by using ARMS].

OBJECTIVE: To detect three common G6PD gene point mutations, G1388A, G1376T and A95G, in Guangdong province and to estimate the approximate frequencies. METHODS: Using the amplification refractory mutation system(ARMS) method to detect G1388A and G1376T and the newly developed ARMS to identify A95G mutation. RESULTS: Ninety cases of G6PD deficient male were examined, and 42 of them were identified to be G1388A(46.7%), 14 G1376T(15.6%), and 12 A95G(13.3%). Totally 68 out of the 90 cases(75.6%) were of the three common mutations. The rest belong to rare or undefined mutations. CONCLUSION: ARMS method can be used in detecting common mutations of G6PD gene with the benefits of simple, fast, economic, and accurate.

Alleles↗
PubMed1999

[Identification of three common G6PD gene mutations in Yi minority in Yunnan province].

OBJECTIVE: To identify three common G6PD gene mutations in Yi minority in Yunnan province. METHODS: G6PD gene mutation of 28 samples from G6PD deficient patients was detected by using amplification refractory mutation system(ARMS). Samples were collected from Yi minority in Yunnan province. RESULTS: In 28 cases, 22 were identified to be three known mutations, including 12 of 1388(G-->A), 9 of 1376(G-->T) and 1 of 95(A-->G). The remaining 6 cases were undefined. CONCLUSIONS: This is the first report of G6PD gene G1376T and A95G mutations in Yi minority. The three common mutations account for 78.6% of the 28 cases.

Alleles↗
PubMed1999

[Studies on a G6PD polymorphic site, cDNA C1311T].

OBJECTIVE: To use amplification refractory mutation system(ARMS) method to detect the G6PD cDNA C1311T mutation, estimate its frequency in a normal south Chinese population, and investigate whether IVS-11 C93T mutation is the cause of certain G6PD deficient cases. METHODS: DNA sequencing was used to confirm the C1311T and the IVS-11 C93T mutations. ARMS was set up to detect the C1311T and to estimate its frequency. RESULTS: Three cases of C1311T mutation were found in 40 G6PD deficient samples. The optimal condition for ARMS was established. Using this method, 19 cases of C1311T were detected in 103 normal men, and the frequency of this polymorphic mutation was estimated to be 18.4% in southern Chinese population. Four cases with G6PD deficiency were demonstrated to be C at the IVS-11 93 position. At the same time, a case of IVS-11 93 C-->T was found in a normal man. CONCLUSIONS: ARMS is a simple, time-saving, and reliable method for detecting known G6PD gene point mutation. The frequency of C1311T in a normal south Chinese population is 18.4%. IVS-11 C93T might be another polymorphic site of the G6PD gene, and it is not the cause of enzyme deficiency in certain G6PD deficient cases.

Asian People↗
PubMed2002

[Expression of human G6PD gene in K562 cells mediated by retroviral vector].

OBJECTIVE: This study aimed to investigate the feasibility of gene therapy for severe G6PD deficiency. METHODS: The recombinant retroviral vector bearing normal human G6PD cDNA was constructed and transferred into the erythroleukemia cell line K562. Author identified the integration of NeoR gene in the targeted cellular DNA by means of specific PCR. Quantitative method was used to measure the expression of G6PD in the targeted cells. RESULTS: Construction of the recombinant retroviral vector was successfully established. PCR indicated the integration of NeoR gene in the targeted genomic DNA of the cells. The vector was also shown to be capable of expressing the foreign gene compared to the control (P<0.01). CONCLUSIONS: The recombinant retroviral vector is competent for transferring and expressing the G6PD gene.

Gene Expression↗
PubMed1992

The study of G6PD in erythrocyte and lens in senile and presenile cataract.

The G6PD activity of erythrocytes in 113 male patients with senile and presenile cataract and 86 controls, and G6PD activity of lens in 30 patients with senile cataract and 42 controls were reported. The cataractous group had higher frequency of G6PD deficiency and lower average G6PD level in erythrocytes and lenses, but without statistical significance. The frequency of G6PD deficiency of erythrocytes in presenile cataractous group was higher than that of senile cataractous group but with no statistical significance too. However, the average G6PD level of erythrocytes in presenile cataractous group was lower than that of senile cataractous group and with statistical significance (P < 0.05). The G6PD activity of lenses only presenile in the cortex and have a positive correlation with that of erythrocytes. There was a case with deficiency of G6PD both of erythrocytes and cataractous lenses in both eyes. The results indicate that the deficiency of G6PD might be one of the cataractous pathogenetic factor for presenile cataract. Measurement of G6PD activity of erythrocytes among population might be of significance in finding the risk factor for cataract.

Adult↗
PubMed1992

Effects of G-6-PD deficiency, experimentally induced or genetically transmitted, on the sorbitol pathway activity. In vitro and in vivo studies.

Aldose reductase catalyzes the NADPH-linked reduction of hexoses to their respective sugar-alcohols, which are involved in the pathogenesis of "sugar-cataracts". In the lenses, the reaction catalyzed by G-6-PD is the source of NADPH supply blocking sugar-alcohol formation and consequently prevents or delays the onset of "sugar-cataracts". We have investigated the effect of G-6-PD deficiency, either experimentally induced or genetically transmitted, on the sorbitol accumulation in whole cells incubated in high glucose media and on the "sugar-cataracts" formation in a galactosemic rat model. We also screened 31 Negro male adults with diabetes mellitus for red cell G-6-PD deficiency. G-6-PD deficiency produced a significant inhibition on sorbitol accumulation in rat lenses and human red cells incubated in 50 mM glucose. In the galactosemic rat model G-6-PD deficiency experimentally induced with acetaminophen delayed the development of cataracts. Finally, two diabetic individuals were G-6-PD deficient and did not show cataracts whereas cataracts were identified in six other diabetic patients.

Acetaminophen↗
PubMed1992

Characterization of G6PD Rohini--a new class III Indian variant.

A new Indian G6PD variant was detected in a 15 yr old Maratha male during a population screening programme in high school children in Bombay (India). The propositus and two family members having the same variant were apparently healthy. This enzyme variant has a mild erythrocyte G6PD deficiency and a slow electrophoretic mobility. It is characterized by a high Michaelis-Menton constant for G6P, a bimodal curve for pH optima and a slight decrease in the thermostability. The rate of utilization of substrate analogue is similar to that of normal. These observations suggest identification of a new class III variant, designated as G6PD Rohini.

Adolescent↗
PubMedDate not supplied

[Overview of erythrocyte glucose-6-phosphate deficiency].

The cloning and sequencing of the G6PD gene has opened a new chapter in the characterization of the numerous G6PD variants described. Many which were thought to be different on the basis of their kinetic properties, are really the same whereas heterogeneity has been found in some which were thought to be homogeneous. We discuss with some detail variants A+, A- and the Mediterranean type.

Blood Protein Electrophoresis↗
PubMed1977

[Genetic heterogeneity of G6PD deficiency: mutant alleles of G6PD in the Shekii district of Azerbaijan].

Examination on G6PD deficiency in 349 patients of Shekii district hospital (Azerbaijan) revealed 16 hemi-, 4 homo- and 9 heterozygotic carriers of the defect. Gd- frequency, calculated from the data obtained (7.7%), may be compared to neighbouring regions' frequencies (6-30%). Carriers of G6PD deficiency are residents of 11 villages located in Alasani-Aphtalan valley, highly endemic with malaria in the past; nearly all marriages are endogamic. Physico-chemical and kinetic study of 10 mutant forms of G6PD, according to WHO program, led to identification of 5 variants of the II class (Shekii, Bideiz, Shirin-Bulakh, Okhut I and Zakataly) and 2 variants of the III class (Okhut II and Martinique-like). Resemblance of the majority of variants in electrophoretic mobility and the level of erythrocyte enzyme activity permit to suggest the existence of a common parental mutant G6PD allele distributed in this area.

Alleles↗
PubMed2004

[Identification of G6PD gene variants from Hakka population in Guangdong province].

OBJECTIVE: Studying on G6PD polymorphism from Hakka population in Guangdong province. METHODS: Identifying the variants of G6PD gene and determining the frequencies respectively with the use of amplified refractory mutation system(ARMS), polymerase chain reaction-single strand conformation polymorphism(PCR-SSCP) and ABI 3100 DNA sequencing technologies. RESULTS: Mutations of G6PD gene in cDNA 1388 (G-->A), 1376 (G-->T), 95 (A-->G), 392 (G-->T), 1024 (C-->T), 1311 (C-->T) have been found. CONCLUSION: G6PD cDNA 1388 (G-->A), 1376 (G-->T), 95(A--> G), 392 (G-->T), 1024 (C-->T) and 1311 (C-->T) accompanied with intron 11 (93 T-->C) are the common mutations in Chinese population. cDNA 1388 (G-->A), cDNA 1376 (G-->T) are the most popular G6PD gene variants in Hakka population. In this study, no new type of G6PD gene mutation was found in the Hakkas of Guangdong.

Asian People↗