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

Population genetic studies in Saudi Arabia are performed for EsD, GPT, AcP, ADA, AK, 6-PGD, PGM, C3, Tf, Hp, Gc, Pi, Bf, Hb, ABO-blood groups and Rh-factor, level of the third component of complement and immunoglobulins. The data are compared with reported frequencies in European and African populations.
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PMID:Genetic studies in Saudi Arabia: red cell enzyme, haemoglobin and serum protein polymorphisms. 10 10

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

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

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 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

Linkage analysis was conducted in 17 families identified by the familial occurrence of breast and ovarian cancer using a series of 17 serologic and biochemical markers. Lod scores suggestive of linkage of breast/ovarian cancer susceptibility to the RH blood group locus on chromosome 1p were obtained. When the presence of fibrocystic disease of the breast in a first-degree relative of an affected family member was added as an indicator of susceptibility, the evidence for linkage increased. No evidence of linkage to GPT or ABO, both previously suggested to be linked to breast cancer susceptibility, was seen in this study.
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PMID:A genetic linkage study of familial breast-ovarian cancer. 272 Jun 37


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