Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.5.4.4 (adenosine deaminase)
 5,136 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Analyses of pairwise associations between several erythrocyte genetic systems were performed on a sample from a Brazilian trihybrid population. The present paper confirms the association between the ACP1 and ADA loci, the acid phosphatase 1 and adenosine deaminase systems. The results indicate that both selection and racial admixture may influence this association.
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PMID:Association between the acid phosphatase 1 and adenosine deaminase systems in a Brazilian sample. 193 87

A genetic study was carried out on phenotype and gene frequencies of the genetic markers in eight red cell enzymes: glyoxalase I (GLO1), glutamic pyruvate transaminase (GPT), phosphoglucomutase (PGM1), esterase D (ESD), adenylate kinase (AK1), 6-phosphogluconate dehydrogenase (6-PGD), adenosine deaminase (ADA), acid phosphatase (ACP1), in the Hungarian ethnic group living in Yugoslavia. The gene frequencies obtained were: GPT*1 = 0.542, PGM1*1 = 0.760, ESD*1 = 0.909, AK*1 = 0.971, PGD*A = 0.971, ADA*1 = 0.939, GLO1*1 = 0.417, ACP1*A = 0.329, ACP1*B = 0.591 and ACP1*C = 0.080. The distribution of these phenotype and gene frequencies was examined and compared with the phenotype and gene frequencies found for the Hungarian population living in Hungary and for other populations living in the northeast of Yugoslavia.
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PMID:Red cell enzyme polymorphisms of the Hungarian ethnic group in Yugoslavia. 212 17

Acid phosphatase (ACP1), adenosine deaminase (ADA), esterase D (ESD), glyoxalase 1 (GLO1), phosphogluconate dehydrogenase (PGD) and phosphoglucomutase 1 and 2 (PGM1 and PGM2) polymorphisms have been studied in the Reggio Calabria province (Southern Italy). The ACP1*A allele and ADA, GLO1, PGD and PGM1 systems have frequencies similar to those reported for Sicily and Southern Italy.
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PMID:Red-cell enzyme polymorphisms in the Reggio Calabria province (Italy). 214 1

A sample of children treated by phototherapy during the neonatal period has been studied in the population of Penne (South Eastern Italy) in order to confirm the association previously reported in newborns from the population of Rome between neonatal jaundice and phenotypes of adenosine deaminase (ADA) and acid phosphatase (ACP1). The present data confirm that the incidence of clinically relevant jaundice is much greater in newborns of phenotype ACP1 BA carrying ADA2 allele than in other infants. Since ACP1 probably acts as flavin mononucleotide phosphatase and is modulated by purine nucleotides, it is likely that enzymes of purine nucleotide metabolism (including ADA), ACP1 and flavoenzymes (including gluthatione reductase and enzymes of Krebs cycle), may represent a polygenic complex influencing bilirubin levels in the first few days of life.
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PMID:Enzyme variability and neonatal jaundice. The role of adenosine deaminase and acid phosphatase. 281 3

Erythrocyte acid phosphatase (ACP1) activity was determined in the absence of modulators and in the presence of either adenosine or inosine as modulators in 154 samples of red blood cells collected from adult donors. Adenosine and inosine showed modulating effects (activation), that were genotype dependent in the allele order pb less than pa less than pc; the activation by inosine was much higher than by adenosine. The modulating effect was dependent on adenosine deaminase (ADA) genotype: In carriers of ADA2 allele the activation with ACP1 phenotype A was lower and that with phenotypes CA and CB was higher than in ADA1/ADA1 subjects. In addition, the basic ACP1 activity (i.e., without modulators) also appeared to be dependent on ADA genotype: The lowest ACP1 activity was observed in A and BA subjects carrying the ADA2 allele. Since the deamination of adenosine to inosine associated with ADA2-1 phenotype is slower than that associated with ADA1, the interaction of ADA on ACP1 activity may in fact be explained by a lower intracellular concentration of inosine in ADA2 carriers and, therefore, by a lower modulating effect of this on acid phosphatase activity.
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PMID:Erythrocyte acid phosphatase (ACP1) activity. In vitro modulation by adenosine and inosine and effects of adenosine deaminase (ADA) polymorphism. 291 87

Ten red cell enzyme polymorphisms, malic dehydrogenase (MDH1), adenylate kinase (AK), phosphohexose isomerase (PHI), adenosine deaminase (ADA), esterase D (ESD), glutamic pyruvic transaminase (GPT), acid phosphatase (ACP1), phosphoglucomutase 1 and 2 (PGM1, PGM2), phosphogluconate dehydrogenase (PGD) were investigated in the Baruya tribe and several Anga tribes living high in the Wonenara and Marawaka valleys in Papua New Guinea Eastern Highlands (6.5S, 145.5E). Also a non-Anga tribe, the Aziana or Kenaze, was sampled. Variants were observed in ADA, PGM1 and PGM2. AK and PHI were monomorphic, all subjects being AK 1 and PHI 1; MDH1 was also monomorphic in Anga while variants were observed in Aziana. This latter tribe differed markedly in each system from the Anga peoples.
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PMID:Red cell enzyme polymorphisms in Papua New Guinea Eastern Highlands. 315 37

A large collection of cultured human tumor cell lines was characterized for the phenotypes of 16 polymorphic enzyme loci: ACP1, ADA, AK1, ESD, FUCA, GLO1, GOT2, G6PD, ME2, PEPA, PEPB, PEPC, PEPD, PGD, PGM1, and PGM3 primarily to detect and monitor against cell line contamination. Among 100 highly characterized cell lines, 59 lines from different patients and 6 pairs of lines (each pair from the same patient's tumor) had unique phenotype combinations and were therefore presumed to be authentic, uncontaminated cell lines. Besides these 71 lines, the remaining 29 lines consisted of several small groups of two to three lines, each group having a different combination and being among the more frequent in the normal population. The 29 lines, therefore, were not suspected to be contaminants. Among unusual findings were the ME2 1 plus 2 phenotype determined for two bladder tumor lines, a G6PD A phenotype found in a line of Caucasian origin determined not to be a HeLa contaminant, and asymmetrical heterozygous phenotypes in several lines. Except for kidney tumor lines, there was no correlation of adenosine deaminase tissue isoenzymes between tumor lines and normal tissues of origin. For several enzymes significant deviations were found in proportions of the phenotypes observed in Caucasian cell lines from expected proportions on the basis of normal population data, indicating possible natural selection among these lines in tissue culture or among the patients of origin.
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PMID:Distinction of seventy-one cultured human tumor cell lines by polymorphic enzyme analysis. 693 74

The variation in the third component of human complement (C3) and orosomucoid (ORM1) serum proteins, and 6-phosphogluconate dehydrogenase (6PGD), adenosine deaminase (ADA), esterase D (ESD), and acid phosphatase (ACP1) red cell enzymes was examined in two samples from autochthonous populations living on either side of the Sierra de Gredos range in Central Spain. These results support only a moderate differentiation between Gredos subpopulations, which is discussed in relation to other Iberian Peninsula groups. Allele frequencies in Gredos show a remarkable heterogeneity as contrasted with other Iberian populations for most of the markers examined; relatively high C3*S, ORM1*F, ADA*1, ESD*2, and ACP1*C gene frequencies are characteristics of Gredos samples. This differentiation was more marked for the Northern Gredos population and could be related to the geographical peculiarities of this region.
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PMID:Human genetic variation in the Sierra de Gredos mountain (central Spain): study of several polymorphisms. 880 39

The genetic structure of the population of the urban and suburban area of the town of Pisa in Tuscany in Central Italy was studied in 1,174 adults residing in 4 zones in each of 3 sampling areas, using the phenotype and gene frequencies of 9 red cell enzymes. The area investigated has a surface of about 30 km2. The enzymes were: acid phosphatase (ACP1), adenosine deaminase (ADA), adenylate kinase (AK1), esterase D (ESD), glyoxalase I (GLOI), glutamic-pyruvic transaminase (GPT), 6-phosphogluconate dehydrogenase (6-PGD), phosphogluco-mutase 1 (PGM1), and phosphoglycollate phosphatase (PGP). For the analysis of the distributions of phenotype and gene frequencies, standardised variances, kinship profiles, analysis of correspondences and isonymy were used. It was found that in this area genetic differentiation (possibly due to recent immigration) can be perceived even at short geographic distances, indicated by the significant regression of kinship on distance, especially visible in the ADA and GPT systems.
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PMID:Detection of genetic structures at short distances in the Pisa area. 946 96

Three hundred fifty newborns from Rome and 351 from Penne were studied in continental Italy. Medium high altitude above sea level and cold winters characterize the area of Penne, while low altitude and very mild winters characterize the area of Rome. An effect of environmental conditions on the association between adenosine deaminase (ADA) and acid phosphatase (ACP1), previously shown in Sardinia, has been confirmed in continental Italy. When compared with expected independent assortment, the proportion of ACP1*A/*A carrying the ADA*2 allele is lower than expected in the lowlands and higher than expected in highlands. In continental Italy there is an interaction among ACP1-ADA genotype, season of conception, and locality. The excess of *A/*A newborns carrying the ADA*2 allele is present only among those conceived in the first half of the year (January-June). Among newborns in Penne conceived in the Spring, the proportion of those with *A/*A genotype is increased and these infants show decreased intrauterine growth. The present data suggest that ADA and ACP1 interact during intrauterine life with effects on development and survival and that such effects are dependent on local environment and season of conception. Am. J. Hum. Biol. 12:214-220, 2000. Copyright 2000 Wiley-Liss, Inc.
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PMID:Adenosine deaminase-acid phosphatase association and the environment: A study in a continental Italian population. 1153 18


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