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)

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

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