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)

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

Members of four families segregating for multiple endocrine neoplasia type IIa (Sipple's syndrome) were typed for 16 segregating blood group, erythrocyte enzyme, and plasma protein loci. Linkage analysis failed to find evidence favoring linkage between the multiple endocrine neoplasia mutation and any segregating marker. The data from this study were combined with the published data to rule out linkage for the HLA, ABO, Rh, or MNS loci at theta less than or equal to 0.25, the ADA, PGMI, AcP, GLOI, or GM loci at theta less than or equal to 0.10, and for GPT, PGD, or HpA at theta less than or equal to 0.05. The pooled data are inconclusive with respect to the previously suggested linkage to the P blood group locus.
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PMID:A linkage study of multiple endocrine neoplasia type IIa. 285 92

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

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

Forty-one individuals from Rurutu Island (Austral Archipelagos) and 41 individuals from the Gambier Archipelagos have been typed for HLA; for blood groups ABO, Rh, MNSs, P, Kell, Kp, Lewis, Lutheran, Kidd; for the electrophoretic systems G6PD, 6-PGD, PGM1, PGM2, AcP, ADA, GPT, Est-D, GLO I, and for the immunoglobulin allotypes Gm and Km. There is a high degree of homogeneity among these Polynesian populations and among other Polynesian populations previously typed. However, small differences exist between the populations of the two archipelagos, possibly due to endogamy or to the smallness of the samples studied. A variant of HLA-Bw22 (called Bw22x) is described.
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PMID:HLA and non-HLA phenotyping and genotyping in Austral and Gambier Polynesian Archipelagos. 347 47

In a population based study of 68 individuals with atopic dermatitis and 94 control individuals it was not possible to demonstrate any significant associations between the disease and gene frequencies of HLA-ABC, ABO, MN, Rhesus, Kell, Duffy, Hp, Gc, Gm, Km/Inv, PGM, AcP, GPT, EsD, GLO, AK, PGD, ADA, and GALT/Gt.
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PMID:Genetic investigations in atopic dermatitis. 359 Jan 41

Genotype frequency correlation in individuals (1448 men and 1400 women) which left and those remained in the region was studied at 12 polymorphic loci (AcP, PGM, PGD, GPT, GLO-1, AK, Pp, Hp, Gc, Tf, ABO and Rh) in four years after the first examination. It is shown that the electivity of removal with respect to the genotypes of polymorphic systems studied determines the genetic structure specificity of the population. The men, in comparison with women, have more pronounced electivity and it is most considerable in the first years of dwelling under extreme conditions. It is ascertained that the electivity of the removal is a leading but not a sole factor determining the genetic structure specificity, because the significant differences in genotype frequencies between removed and remained individuals was found for some of the loci at which the frequency gradient depending on the duration of dwelling in the region was not found.
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PMID:[Biochemical polymorphic systems in the population of immigrant inhabitants of the northeastern USSR. III. Selectivity of migration behavior with respect to the genotypes of polymorphic loci]. 643 3

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 phosphoglycolate phosphatase (PGP) E.C. 3.1.3.18 and 26 other human genetic markers are presented. One hundred and one families from the southwestern area of Germany were tested. Close linkage between PGP and the following markers could be ruled out: ABO, acP, ADA, GPT, PGM1, GLO, HLA, and PGM3. There is some evidence for possible linkage with MNSs, Rh, Gm and EsD. Family segregation data confirm the hypothesis formerly established by Barker and Hopkinson: three common alleles PG1, PGP2 and PGP3 at an autosomal locus PGP.
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PMID:Human phosphoglycolate phosphatase (PGP) E.C. 3.1.3.18: linkage analysis. 692 71

Allele frequencies are reported for 19 blood group, red cell enzyme, and serum protein loci (ABO, Rh, MN, Hb-A, LDH-A, LDH-B, SOD, PGM-1, PGM-2, 6PGD, GPT, ESD, ADA, ACP, PGK, MDH, Alb, Hp, and Tf) determined from 310 blood samples collected among the Gainj, a small population of tribal horticulturalists from highland Papua New Guniea. Fourteen of these loci display genetic variants, and ten of them are sufficiently polymorphic to permit a preliminary analysis of Gainj population structure. Patterns of variation among subdivisions of the population are analyzed using an approach analogous to a multivariate analysis of variance with unbalanced design, and weighted genetic distances are extracted from the results. The distance analysis indicates that patterns of genetic variation within this population reflect the geographical distribution of subdivisions, as well as subdivision size and movement among subdivisions. A parallel analysis of the Gainj and two other tribal groups from highland New Guinea, the Murapin Enga and the Simbai Valley Maring, suggests that the Gainj are both genetically divergent from neighboring populations and internally highly differentiated.
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PMID:The genetic demography of the Gainj of Papua New Guinea. I. Local differentiation of blood group, red cell enzyme, and serum protein allele frequencies. 713 24


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