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At least 343 records · Page 19Linked to original sources
PubMed1981

Regional localization of the genes for human HEXB. PGK, GALA. HPRT, G6PD by somatic cell hybridization.

Twenty independent man-mouse (Cl1D,LA/TK-, HPRT-) and man-hamster (CH,HPRT-) hybrids using female human cells with balanced reciprocal translocation XX,t(X;5)(q21;q11) were analyzed for human genes localized on chromosome 5 (HEXB), on chromosome X (PGK, GALA, HPRT, G6PD) and for the different chromosomes in relation with the balanced reciprocal translocation (chr.5, chr.5q-, chr.Xq+, chr.X). The different results obtained indicate that the genes for human markers HEXB, PGK are on Xq+, and that the genes for human markers GALA, G6PD are on 5q-. These data implicate finally the following localizations: HEXB on 5q11 leads to 5qter; PGK on Xq21 leads to Xpter; GALA, HPRT, G6PD on Xq21 leads to Xqter.

Animals↗
PubMed1993

G6PD Nara: a new class 1 glucose-6-phosphate dehydrogenase variant with an eight amino acid deletion.

In the course of molecular studies on Japanese glucose-6-phosphate dehydrogenase (G6PD) variants using single-strand conformation polymorphisms (SSCP) analysis, we found an unusual class 1 G6PD variant that had nucleotide deletion in exon 9. The patient showed chronic nonspherocytic hemolytic anemia associated with frequent episodes of severe hemolytic attack. The hemolysate exhibited no measurable activity. Although the partially purified enzyme had detectable activity, we could not perform kinetic studies because of its extreme instability. Nucleotide sequencing showed a unique 24 bp deletion at nucleotide 953-976 that predicts an eight amino acid deletion of TKGYLDDP at residue 319-326. While this is one of the most drastic structural alterations found in G6PD variants, the region with the amino acid deletion was distant from both the G6P and NADP+ binding sites and was located in a domain with low sequence homology among species. The comparatively low functional importance of the deleted region may have saved the patient from lethal tissue dysfunction.

Amino Acid Sequence↗
PubMed1993

Study of glucose-6-phosphate dehydrogenase (G6PD) in the Kissan tribals of Orissa and the Kannikar tribals of Kerala, India.

G6PD deficiency has been studied in two tribal populations: Kissan tribals of Orissa and Kannikar tribals of Nedumungad Taluk, Trivandrum, Kerala. The percentage frequencies of G6PD deficiency are 14.13% and 5.5%, respectively. The two areas have a different pattern with respect to malarial infection. The Orissa one is an endemic malaria zone, while the Kerala one is less malarious. This is very well reflected by the frequency distribution of G6PD deficiency.

Cross-Cultural Comparison↗
PubMed1977

G6PD Ube, a glucose-6-phosphate dehydrogenase variant found in four unrelated Japanese families.

A total of 6,120 Japanese males were screened for glucose-6-phosphate dehydrogenase deficiency (G6PD). Five cases with the deficiency were discovered. Two of them and an additional two cases have the same variant, G6PD Ube, characterized by moderate enzyme deficiency, fast moving enzyme activity on electrophoresis, high Ki Nadph, utilization of substrate analogues, kinetics, pH optima, and stability. This variant was distinguished for G6PD A- and from other Oriental variants by biochemical parameters. Differences in the frequency and type of the variants between southern Asia and Japan, suggest that the Japanese who have been isolated on islands where malaria is not endemic, may have developed their own variant traits.

Adult↗
PubMed1996

Rapid detection of common Chinese glucose-6-phosphate dehydrogenase (G6PD) mutations by denaturing gradient gel electrophoresis (DGGE).

We describe here the use of denaturing gradient gel electrophoresis (DGGE) to detect the most common Chinese glucose-6-phosphate dehydrogenase (G6PD) variants, which are the single point mutations: G-->T at nt 1376, G-->A at 1388 both in exon 12 and A-->G at nt 95 in exon 02. In each case, the mutant allele resolves well from the normal allele(s). The distinct heteroduplex bands are characteristic of a particular genotype suggesting that this feature is very useful for identifying all heterozygous carriers for this and other X-linked diseases. When the analysis is extended to other exons, DGGE scans the gene and coupled with direct sequencing, it leads to the identification of new G6PD variation(s). With this approach, we identified a mutation in exon 9 which had not been reported in Hong Kong. Since DGGE can rapidly screen many unknown samples in one gel, this approach could be used to diagnose these G6PD mutations and to identify the at-risk for counselling.

Alleles↗
PubMedDate not supplied

Erythrocyte glucose-6-phosphate dehydrogenase deficiency in Poland--a study on the 563 and 1311 mutations of the G6PD gene.

Studies on the mutation 563T and silent mutation 1311T of the glucose-6-phosphate dehydrogenase (G6PD) gene in Poland were performed in 26 families affected with G6PD deficiency classified-according to WHO-as group 2 G6PD deficiency. Both mutations were found in 19 families, including 17 of Polish origin. Mutation 563T alone was found in 1 Greek female. The frequency of the silent mutation 1311T in Polish unaffected controls was 0.10. It is postulated that at least parts of the Polish (or Middle-Eastern European) and Mediterranean populations are of a common origin.

DNA↗
PubMed1997

Thalassemia and G6PD deficiency in Spanish blood donors.

Our purpose was to determine the frequency of the thalassemia trait and glucose-6-phosphate dehydrogenase (G6PD) deficiency in blood donors of Madrid, composed of persons from nearly all the Spanish provinces (ranging from 21 to 65 years of age). The frequency of thalassemia and G6PD deficiency has been investigated with the following results; thalassemia 0.92% and no G6PD deficiency. The frequencies observed are compared with those found in the general (non donor) Spanish population. The value of this experiment is considered a supplement to other tests done routinely in our official blood donors.

Adult↗
PubMed1998

Molecular characterization of Chinese G6PD deficiency by using polymerase chain reaction/single strand conformation polymorphism.

Using the polymerase chain reaction/single strand conformation polymorphism (PCR/SSCP), we studied the molecular characterization of 97 (86 male and 11 female) glucose-6-phosphate dehydrogenase (G6PD) deficient Chinese newborn babies and infants in southern Taiwan. Movement shifts were clearly seen in exon 2, 5, 6 and 12, respectively. No movement shift was seen in exon 9. Mutation confirmations were followed by direct sequencing. Using this approach we identified the molecular defect in 90 of the 97 above samples. Our results show a total of seven variants, the most common being at nucleotide (nt) 1376 mutation G-->T 42.3% (41/97) and at nt 1388 mutation G-->A 34.0% (33/97). The other mutation sites were at nucleotide 95 A--G (5.2%), nucleotide 392 G-->T (4.1%), nucleotide 493 A-->G (3.1%) and two new variants with mutation at nucleotide 371 A-->G (2.1%) and nucleotide 519 C-->G (2.1%). Still 7.2% (7/97) remained unidentified. There was no significant difference in G6PD activity among the different mutations. Simple and fast, PCR/SSCP may be suitable for molecular screening for G6PD deficiency in Chinese and other people.

Female↗
PubMed1998

Hemolytic crisis in G6PD-deficient individuals in the occupational setting.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency affects an estimated 400 million people. Most of the individuals affected live in Africa, the Middle East and Southeast Asia, or are African-Americans. The ethnic distribution of G6PD-deficiency is extremely variable in Israel--where the Jewish population has been repatriated from more than 60 different countries--its prevalence being from 0% to 58%. Five cases of hemolytic episodes arising from the loading of trinitrotoluene (TNT) were detected. Hemoglobin levels dropped between 4 and 10.2 g/dl. Reticulocytosis reached 4%-26.2% of red blood cells, while bilirubin levels rose to a peak of 5.1 mg/dl. Methemoglobin was 1.5%-8.6% and sulfmethemoglobin 0.9%-4.93% of total hemoglobin. Urinary urobilinogen was increased in all. All five workers showed absolute G6PD deficiency. In one worker a urinary metabolite of TNT 2-6 dinitromono amino toluene, was detected.

Anemia, Hemolytic↗
PubMed1998

Identification of a new SCN5A mutation, D1840G, associated with the long QT syndrome. Mutations in brief no. 153. Online.

The long QT syndrome (LQT) is an inherited cardiac disorder that can cause sudden cardiac death among apparently healthy young individuals due to malignant ventricular arrhythmias. LQT was found to be caused by mutations in four genes LTQ1, LQT2, LQT3 and LQT5, and linkage was reported for an additional locus, LQT4, on chromosome 4q25-27. We have studied a large (n=131) LQT-affected Jewish kindred and identified tight linkage between the LQT-affected status and LQT3 (lod score 6.13, with an estimated recombination fraction of zero). We identified a new point-mutation, A to G substitution at nucleotide 5519 of the SCN5A gene, changing the aspartate 1840 to glycine, D1840G. This is a non-conservative change of an amino acid completely conserved in sodium channels from Molusca to human. The mutation was identified in all affected individuals (n=23), and not identified in all the unaffected family members (n=40), and not in 200 chromosomes of healthy control individuals. The mutation was identified in 3/12 individuals with equivocal phenotype, thus, providing an accurate dignostic tool for all family members. This mutation is currently being used in a cellular electrophysiological model, to characterize the function of the mutated sodium channel in this syndrome.

Amino Acid Substitution↗
PubMed1979

The effect of BCNU and adriamycin on normal and G6PD deficient erythrocytes.

In cell free systems Adriamycin induces oxygen radicals. We have shown previously that Adriamycin generates peroxide in human erythrocytes. BCNU, by inhibiting glutathione reductase, interferes with the major erythrocyte pathway to degrade peroxide. In this investigation we looked at interactions of these drugs with normal and abnormal erythrocytes. In G6PD-deficient erythrocytes Adriamycin posed a significant oxidant stress as demonstrated by hexose monophosphate shunt (HMPS) activity, hydrogen peroxide (H2O2) production, and glutathione depletion. At similar molar concentrations Adriamycin was a stronger oxidant than acetylphenylhydrazine. BCNU=treated normal erythrocytes showed an enhanced susceptibility to oxidant stress as demonstrated by a lack of HMPS response to H2O2 and glutathione depletion during incubations with Adriamycin. The HMPS shunt of BCNU treated RBC was intact as shown by their nearly normal response to methylene blue stimulation. These BCNU studies also demonstrated the inability of H2O2 to react directly with NADPH. In conclusion Adriamycin poses a potent oxident stress to G6PD-deficient erythrocytes. BCNU promotes enhanced susceptibility of normal RBC to oxidant stress and BCNU can act as a probe to define drug interactions with the HMPS. These studies add to a growing body of evidence postulating the importance of oxygen radicals in the therapeutic and/or effects of Adriamycin.

Carmustine↗
PubMed1983

Brief report: linkage between G6PD and fragile-X syndrome.

Eighteen Sardinian pedigrees segregating for the X-fragile site syndrome were studied with respect to the segregation of the fragile site (FS) at Xq28, mental retardation, and macro-orchidism. No exception was found in the association of this symptomatic triad (MOM-X) in 41 out of 42 patients examined. The exceptional individual had micro- rather than macro-orchidism and was found to have a 47, XXY sex chromosome complement. In six informative sibships, the MOM-X syndrome was found to segregate in close linkage association with G6PD-deficiency or protan colorblindness. The maximum likelihood estimate of recombination if 6% with 90% fiducial limits between 2.5 and 19.5% and an odds ratio in favor of measurable linkage of 428:1. However, no hint of measurable linkage was found in six pedigrees segregating for G6PD and the Renpenning syndrome or other unspecified types of X-linked mental retardation. These data give strong support to the generally held hypothesis that the FS at Zq28, characteristic of the MOM-X syndrome, is a direct expression of a genetic change in the same chromosomal region. They also clearly suggest that X-linked MR without FS may be the result of different allelic mutations at the same locus.

Color Vision Defects↗
PubMed1982

Mechanisms of G6PD isozyme pattern changes at fertilization.

The electrophoretic pattern of G6PD changes in sea urchin egg supernatants, gels, and pellets (homogenized in 0.01 M MgCl2, 0.01 M Tris, pH8, and centrifuged at 4 X 10(4)g) within the first minute following sperm penetration. Therefore, the changes in pattern are an early event of egg activation and are not changes in gene activity. Calcium ionophore activation causes similar changes in G6PD in unfertilized eggs, so calcium is probably involved directly or indirectly. Treatment with 1 mg/ml of G6P and/or NADP, DTT, or papain also causes changes in the isozyme patterns, but the resulting patterns are different from patterns obtained from the fertilized fractions, and each treatment produces a unique pattern. The results lead to the conclusion that the different patterns of unfertilized and fertilized eggs are due to enzyme posttranslational modification. Different patterns may result from intrinsic differences in 1) -SH reduction or levels of glutathione, 2) substrate and cofactor levels, or 3) proteolytic enzymes released naturally or as a result of homogenization.

Animals↗
PubMed1992

A new polymorphic site in the G6PD gene.

A polymorphic restriction site has been found in intron 11 of the gene for glucose-6-phosphate dehydrogenase (G6PD). This site is produced by a T----C substitution 13 bp upstream of exon 12, producing an NlaIII restriction site. In various populations there was a strong association between a T at nt 1311 of the G6PD cDNA and the presence of the NlaIII restriction site. Among African Americans, however, the presence of a C at nt 1311 was sometimes associated with the presence of a polymorphic NlaIII site.

Base Sequence↗
PubMed1981

Combined erythrocyte glucosephosphate isomerase (GPI) and glucose-6-phosphate dehydrogenase (G6PD) deficiency in an Italian family.

A severe hemolytic crisis was observed in a 5-year-old boy of Italian origin. Analysis of his hemolysate revealed a hemizygous deficiency of glucose-6-phosphate dehydrogenase (G6PD) and a heterozygous deficiency of glucosephosphate isomerase (GPI). According to the literature this is the fourth family with a combined deficiency of these two enzymes located on different chromosomes. Only the G6PD deficiency seems to be responsible for the hemolytic crisis.

Anemia, Hemolytic↗
PubMed1982

G6PD-Puerto Limón: a new deficient variant of glucose-6-phosphate dehydrogenase associated with congenital nonspherocytic hemolytic anemia.

A new glucose-6-phosphate dehydrogenase (G6PD) variant with total deficiency associated with congenital nonspherocytic hemolytic anemia was found in a Costa Rican family. The study of the partially purified enzyme revealed thermal instability, increased G6P affinity, abnormal pH optimum, increased utilization of analogues, and a chromatographic behavior that differs from all the variants previously described. Thus, this new variant was designated G6PD Puerto Limón.

Adult↗
PubMed1983

G6PD Sendagi: a new glucose-6-phosphate dehydrogenase variant associated with congenital hemolytic anemia.

A new glucose-6-phosphate dehydrogenase (G6PD) variant associated with chronic nonspherocytic hemolytic anemia was discovered. It was found in a 2-year-old male who had a hemolytic crisis after an upper respiratory tract infection. The enzyme activity of the variant was 8.4% of that of the normal enzyme. The enzymatic characteristics were slower than normal anodal electrophoretic mobility, low Km G6P, normal Km NADP, increased utilization of substrate analogues, high Ki NADPH, decreased heat stability, and an alkaline pH optimum. From these results, this was considered to be a new variant and was designated G6PD Sendagi.

Anemia, Hemolytic, Congenital↗