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

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

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 46,XX,del(10)p13 karyotype (Paris Conference, 1971) was identified in a 5-year-old Negro girl with mental and growth retardation, brachy- and trigonocephaly, downward slanting palpebral fissures, hypotelorism, epicanthal folds, ptosis, strabismus, dysplastic nose, high-arched palate, microdontia, small low-set posteriorly rotated ears, asymmetrical thorax, wide-spaced nipples, and minor abnormalities of hands and feet. Both parents and a brother had normal karyotypes. Expression of more than 50 polymorphic gene loci determining blood groups, serum proteins and red cell enzymes was studied. The results did not permit localization of a gene locus on the deleted segment of chromosome 10. The proposita was heterozygous for the Rh and MN blood groups and for the red cell enzymes adenosine deaminase, glutamate pyruvate transaminase and esterase D. These gene loci are thereby excluded from region 10p13 yields 10pter.
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PMID:Del (10)p autosomal deletion syndrome: clinical, cytogenetic and gene marker studies. 115 Feb 32

All published and unpublished population frequency data that could be located for U.S. populations is tabulated and presented for the isoenzyme systems phosphoglucomutase, esterase D, adenylate kinase, acid phosphatase, glyoxalase I, adenosine deaminase, 6-phosphogluconate dehydrogenase, glutamic-pyruvic transaminase, carbonic anhydrase II, and glucose-6-phosphate dehydrogenase. Results obtained by combining data for comparable racial/ethnic groups are also presented. The results obtained with combined data may give better information on frequencies for the U.S. population at large than is obtainable from studies conducted in restricted geographic areas.
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PMID:Distributions of genetic markers in United States populations: II. Isoenzyme systems. 295 46

Five-year multidisciplinary study of longevity in the Georgian SSR made it possible to select two populations (Abkhazian and Imeretian), in which indices of longevity were much higher, than the average level for the rural population of the whole region. The distribution of polymorphic systems of red cell enzymes (adenilate kinase, esterase D, phosphoglucomutase I, acid phosphatase, 6-phosphogluconate dehydrogenase, glyoxalase I, lactate dehydrogenase, adenosine deaminase, glutamate pyruvate transaminase, phosphoglycolate phosphatase, phosphohexose isomerase) and serum proteins (haptoglobin, Gc-component and transferrin) was studied for genetic analysis of these populations. The results indicate that for all the studied loci the observed genotypic frequencies in both populations are distributed according to Hardy-Weinberg equilibrium. The genetic comparison of the studied populations with some other neighbouring populations did not reveal any genetic peculiarities and the both populations concord with the scheme of anthropological types of Hither Asia. The study of age-related changes of gene frequencies and heterozygosity showed some age-related fluctuations of genetic indices in all age groups, but the heterogeneous nature of these deviations indicate that they may be the result of random genetic processes.
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PMID:Genetic study of high longevity index populations. 624 May 76

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