Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.1.30.2 (endonuclease)
 18,621 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

200Lys mutation in the human PRNP coding region has been identified in 45 of the 55 CJD-affected families thus far presented to our NIH laboratory. These codon 200Lys families have a total of 87 patients, and originate from 7 different countries: Slovakia, Poland, Germany, Tunisia, Greece, Libya, and Chile. Forty-seven patients were neuropathologically verified, and brain tissue from 14 patients transmitted disease to experimental primates. The mutation was found by direct sequencing in 4 patients, and it was detected by restriction endonuclease analysis with BsmA 1 and/or the single nucleotide extension reaction in 36 other patients and 45 of 109 first degree relatives (1 parent, 14 siblings, and 30 children). The mutation is associated with all known geographical clusters of CJD (Slovakia, Libyan Jews, Chile) in which the annual mortality rate is tens or hundreds of times higher than the world average of 1 per million. All patients originating from the cluster areas carried the mutation, but it was seen in only 1 of 103 unrelated control individuals from the same areas, and in none of 102 controls from other areas, indicating a strong association between the mutation and disease. The penetrance of the mutation was estimated to be 0.56. Branches of some families migrating from cluster areas to other countries continue to have CJD over several generations, suggesting that CJD in these families is a genetic disorder, in which the 200Lys mutation is responsible for the disease.
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PMID:Creutzfeldt-Jacob disease associated with the PRNP codon 200Lys mutation: an analysis of 45 families. 168 55

A segment of the ribosomal RNA gene of Schistosoma mansoni and a DNA fragment specific to Echinococcus granulosus, cloned in plasmids, have been used as DNA probes to assess the extent of genetic variability within E. granulosus and some distinct strains have been identified. The DNA analysis, involving restriction endonuclease digestion and Southern blot hybridization with the probes, did not demonstrate any significant genetic variation within the U.K. horse/dog or sheep/dog strains but confirmed the distinctiveness of the two strains shown in previous studies. The sheep/dog strain was shown to be cosmopolitan in its distribution and fertile bovine material originating from the United Kingdom, Kenya, Spain and India conformed to this strain by DNA hybridization. In contrast, cattle isolates from Holland produced markedly different DNA hybridization banding profiles indicating that cattle can harbour more than one strain of E. granulosus. Similarly, it was shown that goats can harbour two different strains of E. granulosus, the sheep/dog strain and a form which infects camels. The strain of E. granulosus infecting equines in Spain and Ireland is genetically identical to that infecting horses in the United Kingdom. There is also a different strain infecting pigs in Poland and Yugoslavia. This pig/dog strain appears to be very similar genetically to the forms of E. granulosus which use camels and goats as intermediate hosts and is similar, though not identical, to the variant infecting Dutch cattle. It has been shown that E. granulosus material, fixed for a prolonged period in ethanol, or lyophilized, is amenable to DNA analysis and that it is possible to characterize the DNA of a single adult worm.
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PMID:Genetic heterogeneity within Echinococcus granulosus: isolates from different hosts and geographical areas characterized with DNA probes. 255 77

The presence of virus-derived RNA was investigated in 38 axenically growing Giardia isolates from different geographic areas. The RNA virus was demonstrated in Giardia strains from humans in the U.S.A., England and the majority of strains from Poland. Two strains isolated respectively from a cat and a cavia also contained it. Giardia strains from humans in Belgium and Israel did not contain this RNA virus. Transfection of the RNA virus was accomplished from English and Polish strains, as well as from the cat isolate to isolates lacking it. Differences were observed both in sensitivity of Giardia strains to transfection and in infectivity of the RNA virus from different Giardia strains. Transfection could be carried out with sonicated Giardia extract as well as with filter sterilized medium in which Giardia strains containing RNA virus had grown. The RNA virus did not replicate in Giardia-free medium. No correlation could be demonstrated between the presence of the RNA virus in Giardia isolates and their in vitro resistance to some antiprotozoal drugs, nor with the fact that the strain originated from symptomatic or asymptomatic carriers. The presence of the RNA virus in Giardia trophozoites did not influence the isoenzyme patterns or restriction endonuclease patterns of repetitive DNA. A correlation may exist with the length of time since the isolation in axenic culture of the strain.
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PMID:Occurrence and transfection of a Giardia virus. 357 50

Isolates of multiply-enveloped nuclear polyhedrosis viruses from Agrotis segetum (Lepidoptera: Noctuidae) populations in England (AsNPVE), France (AsNPVF) and Poland (AsNPVP), were compared biochemically and for their infectivity to A. segetum and Mamestra brassicae larvae. The electrophoretic profiles of DNA restriction endonuclease fragments and viral proteins appeared identical for AsNPVE and AsNPVF. AsNPVP was distinct by these techniques, although some of the virus particle polypeptides had the same mobilities as those of the other isolates. A serological comparison of the A. segetum NPV isolates with other baculoviruses, using indirect enzyme-linked immunosorbent assay, suggested that AsNPVP was no more closely related than M. brassicae NPV to the other A. segetum NPV isolates. AsNPVP had significantly lower infectivity for neonate A. segetum larvae (LD50 = 350 inclusion bodies) than AsNPVE (10 inclusion bodies) or AsNPVF (23 inclusion bodies). AsNPVE and AsNPVF did not appear to replicate in M. brassicae larvae, while AsNPVP produced a limited infection in this species.
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PMID:A biochemical and biological comparison of three European isolates of nuclear polyhedrosis viruses from Agrotis segetum. 629 46

Here we have studied the genetic diversity of Helicobacter pylori strains recovered from 64 individual patients, 5 family members and 13 unsuccessfully treated patients. The recovered bacteria were finger-printed by the PCR-RFLP and RAPD methods and virulence associated loci (cagPAI, vacA) were PCR studied. Unique differentiation of every independently isolated strain from not-related persons was possible by RAPD technique. In PCR-RFLP technique several profile groups (7 and 15) for particular endonuclease tested were found. Eleven patients carried strains of the same gene profile (PCR-RFLP) and the same overall genotype (RAPD) before and after therapy. In the family studies, essentially the same strain was found in different relatives in three cases, and different strains were found in the other two cases. Island of cagPAI was present in 79% of all strains tested, half and one-fifth of all strains tested presented, s1am2 and s1m1 alleles of vacA gene, respectively. Independently from identity or diversity of pre- and post-treatment strains and strains recovered from the family members we have been observed identical cagPAI/vacA genotypes. These results suggest that H. pylori infections in Poland can be mixed, although just one strain may often predominate, and that inter-family transmission may be significant even in this high risk society. The genetic feature of virulence-associated loci are similar to those seen elsewhere in Europe, although strains that carry the cagPAI and the potentially more toxigenic alleles of the vacA gene are more common. RAPD technique is proven as most differentiating, however PCR-RFLP allows for easy recognition of mixed infection with two or more different strains. Molecular typing study in case of children therapy may allow reduce rate of relapses by reduction of possible transmission from family source.
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PMID:Genotypes of Helicobacter pylori in Polish population. 1075 12

The aim of this study was checking of the usefulness of chromosomal DNA restriction patterns in differentiation of Citrobacter strains. Molecular characterization of total 56 isolates of Citrobacter from Poland and Czech Republic, was performed by pulsed-field gel electrophoresis after digestion of chromosomal DNA with restriction endonuclease Xba I (5'-TCTAGA-3'). Chromosomal DNA of all tested Citrobacter strains gave after electrophoresis 12 to 21 bands and patterns consisting of 12 to 21 fragments ranging in size from 790 kb to 48.5 kb and smaller, which where not distinguishable. Pulsed-field gel electrophoresis patterns were useful for comparing Citrobacter strains. Identical restriction patterns generated by PFGE were observed in the case of selected strains e.g. strains C. sedlakii studied in this study, coming from an outbreak, having the some phenotype. In addition, PFGE patterns can be used to evaluate the clonal relatedness among bacterial isolates. PFGE can be helpful for assessing genetic relatedness among strains epidemiologicaly unrelated e.g. C. werkmanii strains tested in this study. The sum of DNA fragments after Xba I digestion indicates the genome size of Citrobacter strains. This suggests that PFGE should be useful for epidemiological investigations of Citrobacter strains.
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PMID:[Differentiation of Citrobacter strains using chromosomal DNA restriction patterns]. 1080 60

Cytogenetic or molecular identification of sex chromosomes could help in breeding studies in producing monosex fish stocks, estimating success of androgenesis, gynogenesis, etc. Among fish species sex chromosomes are recognizable in only a few cases. Some populations of rainbow trout Oncorhynchus mykiss show morphologically differentiated sex chromosomes. A strain from Rutki, Poland, showed a heteromorphic pair of subtelocentric chromosome: presumably of the XY type in the male and XX in the female. Restriction endonuclease and DAPI banding resulted in a characteristic banding pattern enabling identification of the X chromosome.
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PMID:Cytogenetic markers for X chromosome in a karyotype of rainbow trout from Rutki strain (Poland). 1259 27

Resistance to antituberculous agents is an important cause of ineffectiveness of antimicrobial therapy. The resistance of M. tuberculosis to antituberculous agents is a result of mutations in genes participating in those agent's action. The antituberculous drug--isoniazid can be activated by Mycobacterium tuberculosis either through a hydroperoxidase I/II or a superoxide-dependent oxyferrous pathway. The present study analyzed the frequency of the mutations occurring in codons 315 and 463 in katG gene of Mycobacterium tuberculosis strains, isolated from patients with pulmonary tuberculosis from Silesia, Poland. In this study 23 isoniazid-resistant Mycobacterium tuberculosis strains were analyzed. For RFLP analysis, a 620 bp amplified fragment of katG gene was digested with restriction endonuclease MspI. Among 24 isoniazid-resistant strains, isolated from patients between 2000-2001, point mutations were found in 30% of analyzed isoniazid-resistant strains in codons 315 or 463 (7 strains). In contrast, no mutations in codons 315 and/or 463 katG gene were found in 16 strains (70%). Obtained results suggests that point mutations S315T (AGC-->ACC) and R463L in katG gene are infrequent in the analyzed population.
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PMID:PCR-RFLP analysis of a point mutation in codons 315 and 463 of the katG gene of Mycobacterium tuberculosis isolated from patients in Silesia, Poland. 1547 53

The high-resolution amplified fragment length polymorphism technique (AFLP), with single PstI restriction endonuclease and two selective primers (PstI-G and PstI-GC), was used for genomotyping and study of the genomic relationships between Genista tinctoria microsymbionts sampled in England, Poland, and Ukraine. Out of 906 amplification products obtained with both selective primers, 537 markers were polymorphic and could be used to differentiate studied nodule isolates. Cluster analysis, based on AFLP patterns from PCR reaction with PstI-G and PstI-GC primers, separated Genista tinctoria rhizobia into three subgroups according to their geographic origin. The results presented in this paper emphasize the role of AFLP analysis in taxonomic and ecological studies of rhizobia.
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PMID:Application of the AFLP method to differentiate Genista tinctoria microsymbionts. 1732 45

Babesia canis has generally been considered the only large Babesia to infect dogs. In this study, we used PCR to detect and characterize B. canis canis isolated from naturally infected dogs in Poland by amplifying and sequencing a portion of the 18S ribosomal RNA (rRNA) gene. Venous blood samples were collected from 76 Babesia-symptomatic dogs. A 559-bp fragment of the B. canis canis 18S rRNA gene was amplified by PCR. The PCR products were then digested with HincII restriction enzyme, and isolates were classified according to whether they were cut (group A) or not (group B) by this endonuclease. Sequencing of the PCR products from the isolates led to the identification of seven sequence variants (four in group A, and three in group B). Sequences were compared with GenBank sequences, and alignments showed that all B. canis canis isolates from Europe may be classified into groups A or B as defined in our study.
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PMID:Molecular characterization of Babesia canis canis isolates from naturally infected dogs in Poland. 1824 59


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