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 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

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

Linkage data on aminolevulinate dehydratase (ALADH, E.C. 4.2.1.24) and a series of other human genetic markers are presented. One hundred and two families (25 of them being informative) from southwestern Germany were tested. Close linkage (theta = 0.05) between ALADH and the following markers could be excluded: Rh, PGM1, Fy, ACP1, MNSs, HLA, Bf, GLO, PGM3, Jk, Pi, PGP, K, GPT. There is some evidence of possible linkage with HPA.
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PMID:Aminolevulinate dehydratase (E.C. 4.2.1.24): linkage analysis. 695 72

In Greenland, and especially East Greenland (Tasiilaq), a common recessive disease, cholestasis familiaris groenlandica (CFG)/Byler-like disease, occurs in Eskimo children [1]. In a period from 1964-1991, at least 22 children out of about 2,121 newborns were born with this disease (gene frequency q = 0.102). Samples from 126 persons, from a large pedigree in East Greenland including 7 affected and from two families in West Greenland with a total of 3 affected children, have been collected for studying 45 polymorphic markers and for mapping the CFG disease. Polymorphisms and exclusion data were found for the following markers: A1BG, ABO, ACP1, AHSG, C1R, C6, FY, GC, GLO1, GPT, HP, ITIH1, JK, GYPA, GYPB, ORM, P1, PGM1, PI, PON, RH and TCN2. Small positive lod scores (Z < 1.5) were found to the following markers: ITIH1, JK and TCN2. The following markers were nonpolymorphic in this material: ADA, AK1, ALAD, APOA4, APOH, BF, C3, BCHE, CHE2, CO, ESD, FUCA2, F13A1, F13B, KEL, LE, FUT1, LU, PEPD, PGD, PGP, PLG, FUT2, SOD1 and TF.
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PMID:Linkage studies of cholestasis familiaris groenlandica/Byler-like disease with polymorphic protein and blood group markers. 834 70

The compiled data on the distribution of polymorphic serum proteins (HP, C3, GC), red cell enzymes (ESD, GlO1, PGD, AK1, ADA, GPT, PGP, PGM1, ACP1) and also on some monomorphic systems (ALB, CAI, CAII, CP, G6PD, HBA, HBB, IDH1, LDHA, LDHB, MDH1, PEPA, PEPB, PEPC, PGM2, PHI, TF) in the Caucasus are presented. The interpopulation heterogeneity test shows a high level of genetic differentiation in the following loci: HP, GC, ESD, AK1, TF, PGD. Gene frequencies in the Caucasian ethnic groups were found to be approximately equidistant from those of European and West Asian populations, in line with their geographical location.
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PMID:Genetic polymorphisms of the Caucasus ethnic groups: distribution of some serum protein and red cell enzyme genetic markers (Part I). 863 20

The genetic structure of the population of the urban and suburban area of the town of Pisa in Tuscany in Central Italy was studied in 1,174 adults residing in 4 zones in each of 3 sampling areas, using the phenotype and gene frequencies of 9 red cell enzymes. The area investigated has a surface of about 30 km2. The enzymes were: acid phosphatase (ACP1), adenosine deaminase (ADA), adenylate kinase (AK1), esterase D (ESD), glyoxalase I (GLOI), glutamic-pyruvic transaminase (GPT), 6-phosphogluconate dehydrogenase (6-PGD), phosphogluco-mutase 1 (PGM1), and phosphoglycollate phosphatase (PGP). For the analysis of the distributions of phenotype and gene frequencies, standardised variances, kinship profiles, analysis of correspondences and isonymy were used. It was found that in this area genetic differentiation (possibly due to recent immigration) can be perceived even at short geographic distances, indicated by the significant regression of kinship on distance, especially visible in the ADA and GPT systems.
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PMID:Detection of genetic structures at short distances in the Pisa area. 946 96


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