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Results for “GLUCOSEPHOSPHATE DEHYDROGENASE”

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PubMed2002

[Risk medications in case of glucose-6-phosphate dehydrogenase deficiency].

The best known morbid effect of glucosephosphate dehydrogenase (G-6PD) deficiency is hemolysis induced by oxidative drugs. When prescribing drugs for G-6PD deficient subjects, two points should be kept in mind: different genetic variants of G-6PD deficiency entail different susceptibility to the hemolytic risk from drugs; thus a drug found to be safe in some G-6PD deficient subjects may not be equally safe in others; the risk and severity of hemolysis is almost always dose-related. The purpose of this paper is to underline the main drugs that cannot be safely administrated to G-6PD deficient subjects. They can be separated in drugs that must be avoided by G-6PD deficient subjects (such as sulphonamides, quinolones, nitrofurantoin), and drugs that do not systematically precipitate hemolysis but must nevertheless be prescribed with caution.

Child↗
PubMed1981

Frequency of thermostability variants: estimation of total "rare" variant frequency in human populations.

Eight erythrocyte enzymes were examined for thermostability in an unselected sample of 100 newborn infants. Three thermolabile variants, one each of lactate dehydrogenase, glucosephosphate isomerase, and glucose-6-phosphate dehydrogenase, were identified, none of which was detectable as a variant by standard electrophoretic techniques. All were inherited. This frequency of 3.8 heritable thermostabiliy variants per 1000 determinations is to be compared with a frequency of electrophoretically detectable variants of 1.1 per 1000 determinations, a frequency of 2.4 enzyme-deficiency variants per 1000 determinations, and a frequency of 1.1 hypo/hyperactive enzyme-activity variants per 1000 determinations in this human newborn population. The total measured frequency of individuals with rare enzyme deficiency or electrophoretic or thermostability (or both) variants at these loci is 8.3 per 1000 determinations. A similar distribution and frequency is seen when the comparison is limited to the seven loci studied by all techniques. It is clear that not all of the electrophoretic and thermostability variants present in the population are detected by the techniques used in this study. Accordingly, it is estimated that the true frequency of carriers of a rare variant for each of these enzyme-coding loci averages greater than 10/1000. Some implications of these frequencies for human disease are discussed.

Adult↗
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↗
PubMed1990

Genetic studies among the Nagas and Hmars of eastern India.

A total of 148 Nagas (65 urban and 83 rural) and 81 Hmars from northeastern India were tested for 15 blood genetic markers. Both the Nagas and Hmars lacked haemoglobin variants and G6PD deficiency and had a high frequency of PGDC. This may be attributed to selective pressures operating at these loci. Genetic distance estimates using 41 alleles at 11 polymorphic loci showed appreciable heterogeneity between the urban and rural Nagas that were in line with the differences in gene frequencies. Considerable genetic admixture of the urban Nagas from the Hmar and other neighbouring populations is evident. The Nagas were found to be quite distant from the mainland Han Chinese and Malays as well as from the Bengalis and Oraons. However, they appear to be related to the Hmar and Lepcha. Evidence supporting the ethnohistoric origin of the Nagas from China or the South Seas is lacking.

Alleles↗
PubMed1978

G6PD variants.

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Epitopes↗