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  • 1
    ISSN: 1432-0584
    Keywords: Pyruvate kinase deficiency Homozygosity ; Compound heterozygosity Enzyme cooperativity ; Nucleotide sequencing Point mutations
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The biochemical properties of erythrocyte pyruvate kinase (PK) together with mutations found in the coding sequence of the R-PK gene in five patients with severe hemolytic anemia due to PK deficiency are described. The enzyme variants were designated PK ‘Mosul’ (homozygote), PK ‘Bukarest1,2’, PK ‘Hamburg1’, PK ‘Köln1’, and PK ‘Essen’ (compound heterozygote). PK ‘Mosul’ showed normal positive cooperative substrate binding, PK ‘Bukarest1,2’ exhibited noncooperative behavior, and PK ‘Hamburg1’ and PK ‘Köln1’ displayed mixed cooperativity, whereas PK ‘Essen’ was negative cooperative. PK ‘Mosul’ was found to be homozygous for the mutation 1151 ACG to ATG, resulting in an amino acid substitution 384 Thr to Met. In one allele of PK ‘Bukarest1,2’ a single nucleotide substitution GAG-TAG was found at nucleotide 721, causing a change of 241 Glu to a chain termination codon (PK ‘Bukarest1’). Additionally, in the second allele of this patient a point mutation at position 1594 (CGG-TGG) occurs, changing 532 Arg to Trp (PK ‘Bukarest2’). Direct sequencing showed the heterozygosity of the patient's mother (PK ‘Bukarest1’/normal) at position 721 and of the patient's father (PK ‘Bukarest2’ /normal) at position 1594. A point mutation at position 1529 (CGA-CAA), causing an amino acid substitution 510 Arg-Gln, was identified in PK ‘Hamburg1’ and PK ‘Köln1’. The second mutation in these variants was not detected. In PK ‘Essen’ no mutation in the coding sequence was found at all. Screening for the mutation at position 1529 in further compound heterozygote patients and in normal subjects of Western European origin showed that this exchange is a common mutation responsible for PK deficiency in this population.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    European journal of epidemiology 7 (1991), S. 207-212 
    ISSN: 1573-7284
    Keywords: Rickettsia ; Intracellular parasite ; genetic engineering ; molecular biology ; rickettsial genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Our understanding of the biology of the rickettsiae, organisms that are the archetype of the obligate intracytoplasmic bacterial parasites, remains muddy and fragmentary. For example although we all appreciate that the rickettsiae can exploit their unique environment, the host cell cytoplasm, but are unable to grow axenically, the basis of this fact is still one of microbiology's central mysteries. It is unfortunate, but true, that because of the inherent difficulty of working within this system, progress on the answers to such questions will be slow and laborious. However, with the application of molecular biological methods, that is, the powerful modern approaches of genetics and biochemistry, the rickettsiology community has the realistic prospect that this field is far from being at a stand-still and that significant increases in our comprehension of the fundamental problems of rickettsial biology are occurring and will continue to occur at ever accelerating rates. Some examples, both in terms of scientific conclusions and technical approaches, of the progress made in recent years and expectations for the near future will be presented.
    Type of Medium: Electronic Resource
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