Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:2.6.1.2 (alanine aminotransferase)
 26,722 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Population genetic studies in Saudi Arabia are performed for EsD, GPT, AcP, ADA, AK, 6-PGD, PGM, C3, Tf, Hp, Gc, Pi, Bf, Hb, ABO-blood groups and Rh-factor, level of the third component of complement and immunoglobulins. The data are compared with reported frequencies in European and African populations.
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PMID:Genetic studies in Saudi Arabia: red cell enzyme, haemoglobin and serum protein polymorphisms. 10 10

The phenotypic frequencies of 24 polymorphic blood markers in a sample of patients with Huntington's disease (HD) have been compared with those in a sample of healthy Australian volunteers in an effort to detect any associations between HD and the markers concerned. The Rh factor, c, has a significantly lower frequency in the HD sample while ACP1c and Gm1,2 have a significantly higher frequency. The linkage relations of the HD locus have been analysed with respect to the various marker loci concerned. This analysis involved the development of methods to overcome the general lack of genetic data concerning the affected parent and the possibility that presently unaffected offspring may be asymptomatic carriers of the HD gene. The results suggest that close linkage between the HD locus and Fy, ADA, ACP1, Gc or Bg is highly unlikely. They also suggest a low probability of close linkage to ABO, Rh, Jk, Lu, AK1, PGM1 or C3. Positive linkage scores were obtained for P, Hp and Gm. The results are inconclusive for MNSs, K, Le, Se, GPT and Inv. The available data were uninformative for linkage between the HD locus and Co, 6-PGD or E1.
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PMID:A linkage study of the loci for Huntington's disease and some common polymorphic markers. 15 19

Authors describe genetically determined polymorphisms, genetical feature and pattern of inheritance of the system of AK. Results and methods used in their studies first in the Hungarian population are reported. On the basis of examination of 1734 persons the incidence of the AK phenotypes was found as follows: AK 1 = 93,59%, AK 2 = 0,05%, and AK 2-1 6,34%. Values of gene frequency: AK1-0,9676, AK2-0,0322. According to the authors findings the maximal (theoretical) chance of the exclusion of paternity on the basis of AK system was 3,02%. In 844 cases of discussed paternity beside the investigation of the systems of A1A2BO, MN, Hp, Rh, Gm/a, x, b), InV(1), Gc, Ss, Kk, Fy(ab), VSP, PGM1, GPT and ADA the system of AK was also studied. In 191 cases (22,62%) the paternity could have been excluded. In 8 cases (0,94%) exclusion of the paternity have been based on the findings of the examination of AK system. In cases of discussed paternity authors recommend the examination of the AK system.
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PMID:[The use of the erythrocyte adenylate kinase system in paternity suits]. 23 Dec 3

The common structural variants of C6 have been used to study the linkage relations of the locus in human pedigrees. Linkage between C6 and RH, Fy, ACP1, MNSS, Jk, HLA, ABO, ESD, Hp, ADA, GPT, Gc, Pi, Gm and Km has been excluded at recombination fractions at least as great as 0-1 in the male.
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PMID:Linkage studies with C6. 59 95

In four population groups of Afghanistan, the Pushtu, Tajik, Hazara, and Usbek, the red cell enzymes EsD, GPT, AcP, PGM1, ADA, AK, and 6PGD were studied. Significant differences in frequency occurred between the Hazara and others in 6PGD, PGM1, and AK system, and between the Pushtu and others in the ADA system.
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PMID:Red cell enzyme polymorphisms in different populations of Afghanistan. 90 Aug 86

In the present paper is reported on the behavior of different serochemical parameters in heterologous perfusion of the liver of pigs. The perfusion of the animal livers was carried out with preserved human blood in 11 recirculation experiments (closed machine circulations). In addition to this an empty circulation with human blood without attachment to an animal liver was carried out, whereby otherwise the arrangement of the experiment was the same, in order to take into consideration the effects of the blood traumatisation in the interpretation of the results. The enzymes GOT and LAP proved as sensible indicators of the lesion of the liver cells occurring in the perfusion of the liver of the pigs. The behavior of the mitochondrial GDH as well as of the lysosomal enzymes SP and BETA-GC which scarcely increased during the recirculations in the perfusate blood, however, allows the conclusion that there did not appear a severe lesion of the liver cells (necrobiosis) during several hours of perfusion. A cholestasis did not develop during the perfusions, when one takes as basis the behavior of the enzymes AP, GGTP and AAP indicating cholestasis. Compared with GOT the enzyme GPT showed by far less elevations in the perfusate blood so that with increasing duration of the perfusion the De-Ritis-quotient significantly increased. Increased LDH-activities above all revealed the increasing during perfusion haemolysis and less reliably a lesion of the liver of the pig. The increase of ADA in the perfusate blood proved as nearly exclusively conditioned by haemolysis. Total protein, albumins, immunoglobulins, cholinesterase and thymol turbidity test remained unchanged in the course of the perfusions.
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PMID:[Studies on the functional ability of swine liver perfused with human blood in machine recirculation attempt. 2. Behavior of serochemical parameters]. 96 Aug 62

The phenotypes of 56 families with 126 children from the Hamburg area as well as gene frequencies and segregation of the genetic markers GPT, AP, ADA, AK, PGM1, PGM3, 6-PGD, CHE, C3, Gc, Tf, Hp and Cp were studied. In regard to linkage, the informative families were correlated to the results of HL-A and GPT typing. The linkage was tested according to the sequential test by MORTON (1955). See article. For other gene loci, linkage to the HL-A or GPT system could not be proved. But the positive lod scores of HL-A/GPT, HL-A/AP and GPT/6-PGD may give indication for linkage.
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PMID:Linkage studies between HL-A and GPT polymorphisms and other genetic markers. 125 71

Studies of 91 individuals in three families allowed a genetic-linkage analysis of the gene governing the production of the low-incidence red cell antigen Wra and provided evidence that Wra is not a member of the Scianna, Landsteiner-Wiener, Chido/Rodgers, or XK blood group systems, and that the "WR" locus is excluded from autosomal sites or regions 1p34-p22.1, 1p21-q23, 1q32, 2p25, 3q21, 4q28-q32, 6p24-q12, 9q34.1-q34.2, 13q14.1-q14.2, 14q24.3-q32.1, 14q32.33, 16p13, 16q22.1, and 21q21-q22.1. "WR" is also excluded from within specified genetic distances of chromosomes 8 (GPT), 18 (JK), 19 (C3), 20 (ADA), and 22 (P1) loci, which brings its exclusion to approximately 10 percent (320cM) of the total genetic map of the genome. The possibility that "WR" is pseudoautosomal is deemed to be highly unlikely.
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PMID:The low-incidence red cell antigen Wra: genetic studies. 198 64

A wide data collection on blood group gene frequencies in Italian regions and provinces is presented. This report is the result of a joint collaboration of human geneticists and forensic haematologists started in 1979 and updates a previous work by the same group. The following genetic polymorphisms have been examined: red-cell antigens (ABO, FY, Kell, Kidd, Lewis, Lutheran, MNSs, P, Rhesus), red-cell enzymes (ACP1, ADA, AK1, ESD, GLO1, GPT, PGD, PGM1), plasma proteins (BF, C3, GC, HP, IGK, PI, TF). Data have been classified according to genetic systems, Italian regions and provinces. Gene frequencies were estimated by the maximum likelihood method. The goodness of fit to Hardy-Weinberg proportions has been evaluated by the likelihood ratio statistics. Genetic heterogeneity of provinces and regions is reported.
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PMID:The distribution of some polymorphisms in Italy. 251 45

In the present paper we report on new data of the frequency of common and rare variants in the Italian population for ADA, AK-1, 6-PGD, EsA, EsB, EsD, PGM-1, PGM-2, SOD-A, AcP, GPT, and PGI. Moreover we present a comprehensive review of the available data on the electrophoretic variants of red cell enzymes in Italians. We find a considerable degree of genetic heterogeneity between the various populations living in the Peninsula and between the population of the Peninsula and of Sardinia. We also find that the estimates of the average heterozygosity are considerably smaller for the population of Sardinia as compared to Peninsula and Sicily. Finally, we report on the occurrence of several uncommon enzyme variants, which overall frequency is very similar to previously reported estimates for North European populations (Harris et al. 1974).
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PMID:Common and rare genetic variants of human red blood cell enzymes in Italy. 252 24


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