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)

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 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

Linkage analyses were performed in a single large family with multiple endocrine neoplasia, type 2 (MEN-2) between 23 classical genetic polymorphisms and MEN-2. We exclude close linkage of the locus for MEN-2 with ABO, ACP1, BF, ESD, Fy, GALT, GLO1, Jk, MNSs, P, PGM1, Rh and TF, as well as absolute linkage with GPT. These results raise to about 6% the proportion of the genome that has been excluded in this one family. Somewhat positive lod scores were obtained for GC (0.92 at theta = 0), GPT (0.73 at theta = 0.1) and HP (1.49 at theta = 0.05); although not statistically significant, these findings suggest regions of the genome that warrant additional study.
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PMID:Linkage analyses of multiple endocrine neoplasia, type 2 (MEN-2) with 23 classical genetic polymorphisms. 286 87

Linkage data on human factor H (HF) and 22 other human genetic markers are presented. Close linkage at theta less than 0.10 can be ruled out for a series of marker systems (Rh, PGM1, ACP1, Jk, Tf, Gc, MNSs, ME2, HLA, GLO1, ORM, Gt, PI, Hp, GPT). Strong evidence for linkage was obtained for peptidase A (PEPA) with lods greater than 3.0 at theta = 0.10 in males and at theta = 0.20 for the sexes combined. From this result the HF locus can be provisionally assigned to chromosome 18.
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PMID:Human factor H (beta 1H-globulin): linkage analysis. 296 49

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

Genetic markers ACP1, PGM1 with subtypes, ESD, GLO1, PGD, GPT, PGP, C3, TF and GC with subtypes, BF, HP, AMY, PLG and PI, were studied in three populations in South Korea, one being the population of the industrial capital Seoul, the second a rural group from Taejon and the third the population of Cheju Island. For the polymorphic systems studied in the present work, a general similarity was observed among the three populations, with the exception of GPT and ACP1 (Taejon vs. Seoul) and subtypes of GC (Taejon vs. Cheiu).
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PMID:Red cell and serum protein polymorphisms in three population groups of South Korea. 315 24

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

Because linkage has been reported between HLA and the locus for hereditary ataxia in some families, we studied a 3-generation kindred in which several individuals had dominantly inherited spinopontine atrophy. Affected family members had upper and lower limb ataxia, hypoactive reflexes, loss of proprioception, dysarthria, dysphagia, and pronounced extraocular movement abnormalities. Linkage analysis, based on 25 markers in 28 people, gave strongly negative results with both HLA (z less than -2.0 for theta less than 0.15) and GLO1 (z less than -2.0, theta less than or equal to 0.01). The highest LOD score was for linkage to GPT on chromosome 16 (z = 0.42, theta = 0.0). To assess the relationship between HLA linkage and phenotype, 4 published kindreds with adequate clinical and neuropathological descriptions were used for comparison to the present family. Persons in the 3 families showing evidence for HLA linkage had clinical and pathologic changes consistent with olivopontocerebellar atrophy, type 1. The conditions in the 2 "nonlinked" families were phenotypically distinct from the HLA-linked condition with respect to extraocular movement findings and peripheral sensory nervous system signs. They differed markedly from each other in neuropathologic changes.
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PMID:Linkage analysis in spinopontine atrophy: correlation of HLA linkage with phenotypic findings in hereditary ataxia. 347 98

GPT and GLO-I phenotypes were determined by means of isoelectric focusing and starch gel electrophoresis, respectively, in a sample of the Galician population (Northwest Spain); GPT: n = 302, GLO-I: n = 500. The gene frequencies come to: GPT1 = 0.5099, GPT2 = 0.4901; GLO1 = 0.4930, GLO2 = 0.5070. No rare variants were found. The Galician gene frequencies are compared with those obtained on other populations from different parts of the world.
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PMID:Genetic polymorphism of GPT and GLO-I in Galicia (northwest Spain): a comparative study. 357 35


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