Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:3.5.4.4 (adenosine deaminase)
 5,136 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In a sample of Bengali Muslems from Dacca, haptoglobin, group-specific component, haemoglobin, adenosine deaminase, adenylate kinase, 6-phosphogluconate dehydrogenase, phosphoglucomutase, acid phosphatase and several other red cell enzyme types were studied. For most serum protein and red cell enzyme systems the gene frequencies are similar to those in other populations to the west of Bangladesh, but others suggest affinity with populations to the east.
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PMID:Some hereditary blood factors of the Bengali Muslim of Bangladesh (red cell enzymes, haemoglobins, and serum proteins). 5 17

Phenotype distributions of some genetic polymorphisms are reported in a sample of 721 diabetics and 515 non-diabetic, non-blood donor controls. Reference is also made, in the case of the ABO and Rhesus systems, to previously published results for blood donors resident in the Durham area. Non-insulin-taking diabetics show an increased frequency of blood group A1 (and A1 + A2) when compared with controls. This difference is particularly marked in male diabetics. When diabetics are compared with age matched controls, the difference is confined to the older cases. It is proposed that this effect is predominantly the result of a deficiency of group A1 in controls rather than the result of increased susceptibility to the disease among A1 people. No association with any of the Rhesus phenotypes is shown. In non-diabetics, the results suggest an enhanced survival value for the rr genotype. No significant associations are seen when the MNSs, Kell, Lewis, Duffy, haptoglobin, red cell acid phosphatase, phosphoglucomutase, adenylate kinase, and adenosine deaminase distributions in these groups of subjects are compared.-
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PMID:Genetic polymorphisms in diabetics and non-diabetics. 11 8

5 serum protein polymorphic systems (haptoglobin, alkaline phosphatase, group-specific (Gc) proteins, beta2-glycoprotein 1 and leucine aminopeptidase) and 6 red-cell polymorphisms (adenosine deaminase, adenylate kinase, phosphoglucomutase, glutamic-pyruvic transaminase, phosphogluconate dehydrogenase and acid phosphatase) have been investigated in 54 subjects with tuberous sclerosis. The frequencies of all systems were compared with those of a control sample drawn from a similar mentally retarded population and abnormal distributions were detected in the haptoglobin and Gc system. Quantitative estimation of the serum levels of the Gc protein failed to detect any inter-group differences. Data on the deviations from the Hardy-Weinberg equlibrium, Haldane's Log ratio test between groups, and gene frequencies of both test and control groups are given. It is suggested that selection by mortality is the possible causation for the abnormal distribution of the Gc phenotypes, but the haptoglobin phenotype distribution requires further investigation with care being taken in the selection of control subjects.
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PMID:Serum and tissue proteins in tuberous sclerosis. I. Serum and red-cell polymorphic systems. 16 11

The frequency of variant forms of 6 red cell enzymes, adenylate kinase, adenosine deaminase, phosphoglucomutase, acid phosphatase, 6-phosphogluconate dehydrogenase and glutathione reductase, were determined in 9 Greek populations. The frequencies of the variants in these populations were similar to those previously reported in most other European populations. However, several differences, particularly in the 6-phosphogluconate dehydrogenase, phosphoglucomutase and acid phosphatase alleles, were found in a comparison of Greeks and Bulgarians, in accordance with their separate ethnic origins. The Macedonians resembled the other Greeks and differed from the Bulgarians.
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PMID:Red cell enzyme polymorphisms in the greek populations. 16 12

About 280 unrelated individuals living in the province of Bologna (Northern Italy) have been studied for the following red cell enzymatic markers: phosphoglucomutase (PGM), adenylate kinase (AK), adenosine deaminase (ADA) and phosphohexose isomerase (PHI). 116 subjects from the same sample have also been analysed for red cell acid phosphatase (ACP). The observed gene frequencies are PGM21 = 0.280; AK2 = 0.030; ADA2 = 0.091; ACPa = 0.297; ACPb = 0.647; ACPc = 0.056. In the PHI system two individuals with the variant PHI 3-1 phenotype have been found.
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PMID:An analysis of red cell enzymatic markers in the province of Bologna (Italy). 19 53

Kadazans, the largest indigenous group in Sabah, northern Borneo, were surveyed for glyoxalase I, phosphoglucomutase I, red cell acid phosphatase, esterase D, adenosine deaminase, soluble glutamate pyruvate transaminase, soluble glutamate oxaloacetate transaminase, 6-phosphogluconate dehydrogenase, uridine monophosphate kinase, adenylate kinase, peptidase B and D, superoxide dismutase, C5, group specific component, haptoglobin and transferrin. Kadazans were found to be polymorphic for GLO I, PGM I, RCAP, esterase D, ADA, s-Gpt, 6PGD, UMPK, Gc, C5, haptoglobin and peptidase B. Rare variants were found for transferrin and peptidase D. No variant was found for s-Got, SOD and AK.
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PMID:Biochemical genetic markers in the Kadazans of Sabah, Malaysia. 28 26

A procedure has been developed to phenotype eight erythrocytic enzymes, phosphoglucomutase (PGM1), adenylate kinase (AK), 6-phosphogluconate dehydrogenase (6PGD), adenosine deaminase (ADA), glyoxalase (GLO), esterase-D (EsD), acid phosphatase (AcP), and glutamic pyruvate transaminase (GPT) in one acrylamide gel and also to detect the presence of common abnormal hemoglobins. The agar overlay technic has been eliminated. This simplified procedure renders the phenotyping of erythrocytic enzymes practical in paternity testing.
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PMID:Phenotyping of eight erythrocytic enzymes in one acrylamide gel. 45 83

Blood samples collected in a single Pygmy tribe, the Aka, living in Bokoka district (Central African Empire) were investigated with respect to the phenotype and gene frequencies of the following 12 enzyme systems: acid phosphatase, adenosine deaminase, adenylate kinase, carbonic anhydrase, esterase D, glucose-6-phosphate dehydrogenase, malate dehydrogenase, phosphoglucomutase 1, phosphoglucomutase 2, phosphogluconate dehydrogenase, superoxide dismutase and serum cholinesterase variants (locus E1 and E2). The data obtained in the study of genetic polymorphisms of this isolated and inbred population show a specific pattern with the following characteristics: the very low frequency of PGDB and pa alleles; the existence of two rare PGM variants at the PGM2 locus, typical PGM26Pyg (4.2%) and PGM29 (0.2%); the high frequency of the pr allele (10.8%) and CAII2 (8.22%) and ESD2 genes (18.4%). Furthermore, at the G6PD locus four distinct alleles have been found: the negroid GdA- (4%) and GdA+ (16%), the common GdB+ (79.2%)--, and the rare Gd+Ibadan Austin (0.7%). Cholinesterase typings disclosed the presence of the uncommon E1f and E1s genes distributed within a single breeding unit. The results are compared with other data previously reported on South African Khoisan and some Negroid populations; the particular genetic background of Pygmies is discussed.
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PMID:Population genetic studies of the Aka pygmies (Central Africa): a survey of red cell and serum enzymes. 46 35

Results are presented on 147 individuals from northern Nigeria who were tested for the red cell antigens A, A1, B, H, M, N, S, s, He, P1, C, D, Du, E, c, e, Ce, v, Lua, Jka (some for Jkb), Lua, K, Jsa (some for Jsb), Kpa, Rd, Fya and Fyb, and for variants of the serum proteins haptoglobin and transferrin and of the red cell enzymes acid phosphatase, phosphoglucomutase, glucose-6-phosphate dehydrogenase, adenylate kinase, adenosine deaminase, phosphohexose isomerase and lactate dehydrogenase. The results found are of interest as they are among the very few published for this area of Nigeria, but they show little that is unexpected for people living in this region.
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PMID:The inherited blood factors of some Northern Nigerians. 46 76

The Njinga, a matrilineal kiMbundu-speaking Negro people of northern Angola, inhabited the coast near Luanda during the sixteenth century, and were driven inland by Portuguese expansion subsequently. There is no evidence from the present sterogenetic study that they have received any appreciable contribution of Caucasoid genes. Nor is there any evidence of San ('Bushman') admixture apart from a moderate frequency of Gm; their genetic profile and their anthroposcopic traits disclose a greater similarity to West African than to Southern African Negroes. The present study confirms previous findings on the ABO, MNSs, Kell, Duffy, erythrocyte acid phosphatase, adenosine deaminase and adenylate kinase systems, and contributes the first account of the peptidase A, B, C and D, first and second locus phosphoglucomutase, glucose-6-phosphate dehydrogenase, esterase D, haptoglobin, transferrin, Gm and Inv systems in the Njinga.
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PMID:The Njinga of Angola: a serogenetic study. 53 37


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