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

Four group systems of serum proteins (Hp, Gc, Gm, Km) and five group systems of erythrocyte enzymes (AP, PGM1, GPT, AK, EsD) were determined in 63 patients with malignant lymphoma. Statistical analysis of the distribution of the above mentioned systems in patients and Polish population samples did not reveal any significant differences, which points to the lack of any correlation between the disease and the group systems under examination.
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PMID:Group systems of serum proteins and erythrocyte enzymes in malignant lymphoma. 8 72

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

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

A procedure has been developed to phenotype eight erythrocytic enzymes, phosphoglucomutase (PGM1), adenylate kinase (AK), 6-phosphogluconate dehydrogenase (6PGD), adenosine deaminase (ADA), glyoxalase (GLO), esterase-D (EsD), acid phosphatase (AcP), and glutamic pyruvate transaminase (GPT) in one acrylamide gel and also to detect the presence of common abnormal hemoglobins. The agar overlay technic has been eliminated. This simplified procedure renders the phenotyping of erythrocytic enzymes practical in paternity testing.
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PMID:Phenotyping of eight erythrocytic enzymes in one acrylamide gel. 45 83

Four group systems of serum proteins (Hp, Gc, Km, Gm) and five group systems of erythrocyte enzymes (AP, PGM1, GPT, AK, EsD) were determined in samples of patients with rheumatoid arthritis and in healthy controls. Statistically significant differences were found in Gm system, namely Gm(1) factor was more frequent in rheumatoid patients than in healthy subjects.
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PMID:Types of serum proteins and erythrocyte enzymes in rheumatoid patients. 74 68

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

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

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


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