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)

GPT types are presented for 150 Norwegian matings, with 454 children, and 1703 Norwegian mother/child combinations. There were five exceptions to a simple codominant inheritance pattern, all believed to be due to a segregating Gpt-0-allele. Rare phenotypes were encountered in two of the families and in 11 of the mother/child combinations. Compiled family material and mother/child material are presented. No indication of association was found between GPT types and phenotypes within the ABO, Rh, MN, Hp, Gc, C3, PGM1, and ACP1 systems. There is a marked association between EBS-Ogna (epidermolysis bullosa simplex, type Ogna) affection and GPT phenotypes. This reflects the Gpt-EBS1 linkage phase. No evidence was found of association between GPT phenotypes and either nephrological diseases or PKU (phenylketonuria).
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PMID:Genetics of the GPT system. Family, mother/child and association studies. 4 32

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

Linkage relations between the C6 and 33 other genetic marker loci have been analyzed in Norwegian pedigrees, including 114 matings with 388 informative children, by use of the MOSM computer program. No suggestion of linkage was found. Very close or close linkage (theta less than 0.06) has been ruled out for males between C6 and the following 19 marker loci: GPT, HLA + Bf, Rh, C3, Hp, PGM3, Km, Gm, Fy, Gc, ABO Jk, GLO1, K, MNSs, PTC, ACP1, PGM1, and Pi. For several of the relations even loose-linkage is unlikely.
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PMID:Genetic linkage relations of the sixth component of complement (C6). 42 2

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

Linkage analysis of Lu and Se and 31 other loci indicate that Lu:Se are not closely linked to ABO, ACP1, Co, Do, Est.D,Fy, GC, Gm, GLO:HLA, GPT, Inv, Jk,K,MN,P,PGD,PGM1, Rh,Sc, UMPK OR Yt. Lod scores for 18 families informative for Lu:Se gave no evidence for sex differentiation in recombination fraction: theta for males was 0.07, and for females, .08.
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PMID:The Lutheran and secretor loci: genetic linkage analysis. 83 69

The genetic structures of the population residing in the provinces of Venice and Rovigo in the Veneto region at the north of the Po delta in Italy was studied in 1,210 individuals residing in 18 sampling areas, using the phenotype and gene frequencies of 7 red cell enzymes: acid phosphatase (ACP1), esterase D (ESD), glyoxalase I (GLOI), glutamic-pyruvic transaminase (GPT), 6-phosphogluconate dehydrogenase (6-PGD), phosphoglucomutase 1 (PGM1), and phosphoglycollate phosphatase (PGP). For the analysis of the distributions of phenotype and gene frequencies, standardized variance and kinship profiles were used. It was found that the genetic differentiation within each province is low, and that only two systems, GPT and PGP, are significantly different between the two provinces. The samples studied seem to belong to a mainly homogeneous population.
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PMID:Genetic structures in the population of Veneto. 149 13

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

The genetic structure of the population of Ferrara Province in the Po delta in Italy was investigated using chi 2 analysis, kinship analysis, analysis of correspondences, and geographical mapping of principal components of gene frequencies. chi 2 Analysis tests for Hardy-Weinberg equilibrium and for heterogeneity of gene and phenotype frequencies; kinship analysis tests for association between indicators of genetic and geographic proximity; analysis of correspondences relates localities and genetic systems in an eigenvectorial space; and geographic mapping displays the principal components of gene frequencies in the real space. In 1,364 adults in 26 residential units, seven presumably neutral isoenzyme systems were typed; ACP1 ESD, GLO I, GPT, PGD, PGM1 and PGP. It was found that average kinship for these neutral systems is correlated with geographic distance in this small area, but not as strongly as kinship for beta-thalassemia. A north-south gradient was observed for ESD. Analysis of correspondences indicated GPT, PGM1, and GLO I as the systems contributing most to differentiation within the province. The maps obtained from principal components of gene frequencies were consistent with the migrational history of the area.
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PMID:Genetic structure of the human population in the Po delta. 274 51

We conducted genetic linkage analyses of breast cancer in 20 pedigrees, each having at least one case of bilateral breast cancer diagnosed before 50 years of age. We tested for linkage using inheritance models from previous segregation analyses, incorporating differences in risk based on menopausal status into the analyses. We tested for heterogeneity by predividing the data set based on the interval between diagnoses of the proband's two primaries (less than 1 year (synchronous) versus at least 2 years (asynchronous], and on the histological types of breast cancer in the pedigrees. Very tight linkage could be excluded between breast cancer and ABO, GC, GPT, MNS, and PGM1 for some of the different linkage analyses. A maximum lod score of +1.01 (at theta = 0.001) between ACP1 and a breast cancer susceptibility locus was seen in the asynchronous all-cases subsample.
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PMID:A genetic epidemiologic investigation of breast cancer in families with bilateral breast cancer. II. Linkage analysis. 276 68


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