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)

Gene frequencies for 17 red cell enzymatic markers have been determined in two samples of the Italian population (Lombardy and Tuscany regions). A significant difference was found between the two samples for the AK1 and PGM1 systems (AK1*2 .028 and .044, PGM1*2 .254 and .301 in Lombardy and Tuscany respectively). Variant phenotypes, for PEPA, PEPB, CA2, PGM2, PGD and GPT markers, have been observed; some of these are due to new alleles occurring at the CA2 and PGD loci.
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PMID:A study of several red cell enzyme markers in two samples of the Italian population. Report of new CA1 and PGD variant phenotypes. 315 96

Forty-one individuals from Rurutu Island (Austral Archipelagos) and 41 individuals from the Gambier Archipelagos have been typed for HLA; for blood groups ABO, Rh, MNSs, P, Kell, Kp, Lewis, Lutheran, Kidd; for the electrophoretic systems G6PD, 6-PGD, PGM1, PGM2, AcP, ADA, GPT, Est-D, GLO I, and for the immunoglobulin allotypes Gm and Km. There is a high degree of homogeneity among these Polynesian populations and among other Polynesian populations previously typed. However, small differences exist between the populations of the two archipelagos, possibly due to endogamy or to the smallness of the samples studied. A variant of HLA-Bw22 (called Bw22x) is described.
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PMID:HLA and non-HLA phenotyping and genotyping in Austral and Gambier Polynesian Archipelagos. 347 47

A sample of the population of Naples has been examined for several red cell enzyme markers. About 2,000 newborn have been analyzed for ACP, GLO I, and UMPK; 1,000 of them were also analyzed for PepA and PepB, and 500 for PGM1 and PGM2. In addition about 400 school children have been typed for the PGD and PGP polymorphisms. The observed gene frequencies for the polymorphic systems are: ACPA = 0.293, ACPB = 0.667 and ACPC = 0.040; GLO1 = 0.372; GPT2 = 0.462; UMPK2 = 0.029; PGM21 = 0.279; PGDC = 0.037; PGP1 = 0.953, PGP2 = 0.038 and PGP3 = 0.009. Moreover during the screening of PepA, PepB and GPT markers, some rare alleles have been encountered, one of which, at the GPT locus, has never been reported before. We propose for it the name GPT10.
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PMID:A study of ten red cell enzymatic markers in the Naples' population. Report of a new GPT variant phenotype. 629 21

In the course of a long-term research project, three groups of Pygmies and some non-Pygmy Central Africans have been examined for the following red cell enzyme markers: ACP, PGM1, PGM2, PEPA, PEPB, and PEPC, AK, ADA, and PHI. Several other red cell enzymes (ESD, CA1 and CA2, GPT, GLO, and DIA1) have been studied in only some of these groups. This paper reports all the information we obtained, including what we have already published. The following conclusions can be drawn from the whole body of data: (1) Gene patterns of Pygmies are those typical of other Africans (e.g.: lack of ADA2 and AK2 genes, low GPT2 gene frequency, polymorphism of the CA2 locus, and presence at polymorphic frequencies of PEPA2 allele. (2) Superimposed on this African genetic makeup, a number of Pygmy characters were identified, namely, a private polymorphism for the PGM26 Pygmy allele and possibly one for the PEPC2 allele, and particularly high ACPR and low PGM12 gene frequencies. (3) Some markers, especially PGM1 and ACP, turned out also to discriminate efficiently among different groups of Pygmies.
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PMID:Population genetics of red cell enzymes in Pygmies: a conclusive account. 693 95

Data on the genetic polymorphisms of the isoenzyme markers GPT, PGM1, PGM2, AcP, AK and ADA are presented for 7 ethnically defined Negro sub-samples (total n = 847-973, depending on the genetic marker concerned) from South Africa. The results are discussed in terms of previous findings, of the anthropogenetic interrelatedness of the populations concerned and of the factors assumed to have an influence on the distribution of the particular genetic markers. The entire data is subjected to the computation of "genetic distances" using several of the formulae available for this purpose. Some tentative conclusions on these results as well as on the formulae applied are drawn.
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PMID:South African Negroes: isoenzyme polymorphisms (GPT, PGM1, PGM2, AcP, AK, and ADA) and tentative genetic distances. 694 21

The compiled data on the distribution of polymorphic serum proteins (HP, C3, GC), red cell enzymes (ESD, GlO1, PGD, AK1, ADA, GPT, PGP, PGM1, ACP1) and also on some monomorphic systems (ALB, CAI, CAII, CP, G6PD, HBA, HBB, IDH1, LDHA, LDHB, MDH1, PEPA, PEPB, PEPC, PGM2, PHI, TF) in the Caucasus are presented. The interpopulation heterogeneity test shows a high level of genetic differentiation in the following loci: HP, GC, ESD, AK1, TF, PGD. Gene frequencies in the Caucasian ethnic groups were found to be approximately equidistant from those of European and West Asian populations, in line with their geographical location.
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PMID:Genetic polymorphisms of the Caucasus ethnic groups: distribution of some serum protein and red cell enzyme genetic markers (Part I). 863 20