Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P02774 (Gc-globulin)
 196 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Twenty-seven independent polymorphic loci were detected by two-dimensional electrophoresis (2DE) of serum, erythrocytes, and fibroblasts in two large families and analyzed for linkage to classical genetic markers. We detected seven serum, four erythrocyte, and 17 fibroblast protein loci that exhibited charge variation in these two families and in a sample of unrelated individuals. The genetic basis of protein variants was confirmed by quantitative gene-dosage dependence and by conformance to Mendelian transmission in the two families, except for four rare variants for which transmission analysis was not possible. Linkage analysis demonstrated that each of the variants represent products of independent loci, with the exception of erythrocyte locus (RBC4), which we also detected in fibroblasts (NC27). Two allozyme polymorphisms, glyoxalase-1 (GLO1) and phosphoglucomutase-3 (PGM3) were specifically identified here based on genotypic concordance and molecular mass. Unknown fibroblast protein (NC22) may be linked to apolipoprotein E (lod score = 2.8 at theta m = theta f = 0), while a serum protein locus (SER1) may be linked to alpha-haptoglobin (lod score = 2.54 at theta m = .20, theta f = .01). Six of seven polymorphic serum loci were previously located on two-dimensional gels: alpha-1 antitrypsin (PI), Gc-globulin (GC), alpha-2 HS glycoprotein (HSGA), alpha-haptoglobin (HP), and two apolipoproteins (APOE and APOA4). Six of 17 polymorphisms detected in fibroblasts were positionally identical to polymorphic loci seen in lymphocytes. These studies indicate a minimum level of average protein charge heterozygosity of approximately 2.2% for the most predominant human cellular proteins and of 5.6% for the most predominant proteins of serum.
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PMID:Twenty-seven protein polymorphisms by two-dimensional electrophoresis of serum, erythrocytes, and fibroblasts in two pedigrees. 386 81

A group of 1916 Russian men donors was studied for 15 electrophoretic blood protein systems, coded by 22 protein loci: Transferrin (Tf), Haptoglobin (Hp)--2 loci, Group-specific component (Gc), Hemoglobin (Hb)--2 loci, Lactatdehydrogenase (LDH)--2 loci, Malatdehydrogenase (MDH), Erythrocyte esterase (Est)--4 loci, Albumen (Alb), 6-phosphogluconatdehydrogenase (6 PGD), Phosphoglucomutase (PGM)--2 loci, Esterase D (Est D), Adenosindesaminase (ADA), Acid Erythrocyte phosphatase (AcP), Glutamic transaminase (GPT) and Glioxalase-I (GLO-I). Ten loci were defined as polymorphic, the level of heterozygosity for cumulative loci was 0,1435 +/- 0,003. Moscow population was compared to major human races for the set of genetic characters--heterozygosity, correlation coefficient of single locus heterozygosity, a genetic distance. It has been shown that the extent of relation of ethnic groups to Moscow population decreases as follows: Caucasoids, Mongoloids, Negroids.
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PMID:[Polymorphism and heterozygosity levels of the Russian population of Moscow: data for 22 gene loci coding blood proteins]. 719 52

Human individual sensitivity to health-hazardous occupational factors and probability of developing chronic lung diseases depend on genetic variation of serum and erythrocytic proteins. The present work was aimed at studying the phenotypes of serum and erythrocytic proteins in patients with occupational respiratory diseases. We studied 7 highly polymorphic genetic systems the varieties of which may be connected with development of bronchopulmonary pathology (BPP) and the immune status of the body: proteinase inhibitor (Pi), third component of the complement (C3), transferrin (Tf), group-specific component of blood serum (Gc), haptoglobin (Hp), erythrocytic glyoxalase (Glo) and phosphoglucomutase (PGM) in patients with chronic bronchitis, silicosis, occupational bronchial asthma and in the control group consisting of Moscow population not exposed to occupational hazards and apparently healthy workers of an engineering plant. Considerable differences were revealed in genetic structure of the patients with bronchopulmonary pathology as compared with the apparently healthy people along a series of Integrated system: proteinase inhibitor (Pi), C3, Tf, Gc, PGM. Comparison of the study groups by significant differences in the aggregate of the genetic information obtained suggests that 5 (HP, C3, Tf, Pl, PGM1) of the 7 studied systems showed the hereditary features of silicosis. The gene carriers Hp*2, C3*F, PGM1*2-, TF*D, GC*R due to peculiar biochemical processes appear to have less adaptive potentialities and a greater likelihood of the disease on exposure to industrial factors. The examined patients with chronic bronchitis showed an increase in the variant of GC*2 and of a rare variants of proteins GC*R and Pi*S, the patients with occupational bronchial asthma showed an increase in the variant of Hp*2 and of a rare variant Pi*S. Such studies could be useful for assessment and forecast of individual risk of occupational diseases.
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PMID:Genetic-biochemical criteria for individual sensitivity in development of occupational bronchopulmonary diseases. 1209 83