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

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

Some families with abnormalities of chromosome 9 have been combined with others from the literature to show that AK1 and ABO must lie near the end of that chromosome. Current evidence suggests that both lie in band 9q34. MNSs, GPT and Gc can be excluded from chromosome 9.
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PMID:Segregation of ABO, AK1 and ACONs in families with abnormalities of chromosome 9. 20 46

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 a series of 726 random Caucasian adults tested with anti-Coa and anti-Cob allele frequencies were Coa 0.9470, Cob 0.0530. The distribution of Colton phenotypes in 205 children of 57 selected families was in accordance with expectation. A linkage analysis of Co and 26 other loci indicates that Co is not closely linked to AcP1, ABO, AK1, Ch, Do, GLO, Gm, GPT, HLA, Hp, K, Lu, MN, PGM1 or Rh and does not lie between PGD and PGM1 on chromosome 1.
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PMID:Colton blood groups in Canadian Caucasians: frequencies, inheritance and linkage analysis. 85 21

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

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

Three ethnic groups from Hungary, the general population of Hungary, the Matyo and the Gypsies, were examined with respect to the genetic markers PGP, GLO1, GPT, ACP1, ESD, PGD, ADA, AK1, PGM1 subtypes, C3, BF, HP, GC subtypes, PI, TF subtypes and AMY2. Significant variations were noted for the gene frequencies of GPT and PGD between the Hungarian and Matyo sample. The Gypsies deviate in the systems of GLO1, ACP1, ADA, C3, BF and HP from the Hungarians.
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PMID:Genetic markers among three population groups of Hungary. 315 13

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

Serological analysis of the red cells from members of a large French-Canadian kindred proved that the Swa antigen is not part of the P1, Dombrock or Yt blood group systems. A linkage analysis of the SW blood group locus in relation to 27 other loci indicates that SW is not closely linked to ABO, ACP1, ADA, AK1, C3, D2S5, DO, ESD, F13A, FY, GLO1, GPT, HP, IGHG, JK, LU, MYCL, P1, PGP, PGM1, PLG, RH or YT. By inference the study also allows exclusion of Swa from the Landsteiner-Wiener, Radin and Scianna blood group systems and exclusion of SW from the p22.1 to p34 segment of chromosome 1.
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PMID:The Swann phenotype 700:4,-41; genetic studies. 336 42

We studied a 3-generation kindred to determine whether the gene responsible for one form of von Willebrand disease (vWD) is linked to 1) the HLA locus, or 2) a polymorphic locus for a serum enzyme or red cell antigen. HLA haplotypes were determined in 12 affected family members, in 10 cases by direct analysis and in 2 cases by deduction. Seven of 12 affected individuals were A2, B7, as compared to 0 of 9 unaffected. However, the maximum lod score was only 0.41 at a recombination frequency of 0.2. Of the 17 serum red cell and plasma protein markers studied, 5 (Kell, ADA, AK1, BF, GC) did not segregate, and 12 (ABO, Rh, JK, Fy, P, PGM1, ACP1, ESD, GLO1, MN, HP, GPT) gave lod scores less than + 1.0. We conclude that there is no strong evidence for linkage between the locus for vWD and any of the markers studied.
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PMID:Linkage analysis in von Willebrand disease. 660 6


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