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  • 1
    Electronic Resource
    Electronic Resource
    Concentration and distribution of heavy metals in tissues of two cephalopods, Eledone cirrhosa and Sepia officinalis, from the French coast of the English Channel (1992)
    Springer
    Marine biology 114 (1992), S. 407-414 
    Details
    ISSN: 1432-1793
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract The concentrations of 11 heavy metals (Ag, Cd, Co, Cr, Cu, Fe, Mn, Ni, Pb, V and Zn) were measured in the tissues (digestive gland, branchial hearts, gills, digestive tract, kidney, genital tract, muscle, skin, shell) of the two cephalopods Eledone cirrhosa (d'Orb.) and Sepia officinalis (L.) collected from the French coast of the English Channel in October 1987. The tissues of both species displayed a similar pattern of heavy-metal accumulation: the digestive gland, branchial hearts and kidney were the major sites of concentration for all 11 metals; the digestive gland accumulated silver, cadmium, cobalt, copper, iron, lead and zinc, the branchial hearts high concentrations of copper, nickel and vanadium, and the kidney high concentrations of manganese, nickel and lead. The digestive gland, which constituted 6 to 10% of the whole-animal tissue, contained 〉80% of the total body burden of Ag, Cd and Co and from 40 to 80% of the total body burden of the other metals. The ratios between heavy metal concentrations in the digestive gland and those in the muscle separated the elements into three groups, those with a ratio ≤10 (Cr, Mn, Ni, Pb, V, Zn), those with a ratio 〉10 to 〈50 (Co, Cu, Fe), and those with a ratio ≥50 (Ag, Cd). The digestive gland of cephalopods (carnivorous molluscs whose age can be easily calculated with great accuracy) would seem to constitute a good potential indicator of heavy metal concentrations in the marine environment.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00350031
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Two factor IX mutations in the family of an isolated haemophilia B patient: direct carrier diagnosis by amplification mismatch detection (AMD) (1990)
    Springer
    Human genetics 〈Berlin〉 85 (1990), S. 200-204 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Rapid identification of gene defects allows definite carrier and prenatal diagnosis in virtually every family with haemophilia B. We report a study of the family of an isolated patient. Analysis of all the essential regions of the patient's factor IX gene (promoter, exons, transcript processing signals) revealed two mutations: one C→T transition at residue 17762 and another at residue 30890. The former created a translation stop at codon 116, and the latter caused substitution of His 257 by Tyr. The translation stop is an obvious detrimental mutation, while the His 257→Tyr substitution has uncertain functional consequences. From analysis of other family members, it was found that the first mutation had occurred at grandpaternal gametogenesis, in keeping with the negative family history, while the second was of more remote origin and did not reduce the maternal grandfather's factor IX coagulant and antigen level. This neutral mutation (His 257→Tyr) pinpoints a poorly conserved amino acid in factor IX and related serine proteases. Its coexistence with a detrimental mutation stresses the need to examine all essential regions of a gene before attempting to interpret the functional consequences of its sequence changes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00193196
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  • 3
    Electronic Resource
    Electronic Resource
    DNA polymorphism of the C2 locus (1985)
    Springer
    Immunogenetics 22 (1985), S. 377-390 
    Details
    ISSN: 1432-1211
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The extent of the C2 locus in the HLA class III region has been determined by Southern blotting techniques and by DNA sequence analysis. The gene is 18 kb in length and therefore provides a marked contrast to the adjacent factor B gene of 6 kb. A novel restriction fragment length polymorphism (RFLP) has been identified using the endonuclease Sst I and a genomic probe derived from the 5′ region of the C2 gene. Four variants have been detected in a sample of unrelated individuals with haplotypes carrying the C2C allele. Further analysis using C2 and factor B cDNA probes has determined the relationship between this and the other RFLPs previously identified in this region of the genome. Together, the three polymorphisms identified so far make the subdivision of previously indistinguishable haplotypes possible. They therefore constitute a series of markers which increase the resolution of genetic variation in the C2 locus and they may be important in studies of diseases associated with this region of the major histocompatibility complex.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00430921
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  • 4
    Electronic Resource
    Electronic Resource
    Direct estimate of the haemophilia B (factor IX deficiency) mutation rate and of the ratio of the sex-specific mutation rates in Sweden (1992)
    Springer
    Human genetics 〈Berlin〉 89 (1992), S. 319-322 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Mutation rates for X-linked recessive diseases have so far been estimated indirectly by postulating an equilibrium between the loss of defective genes caused by the low reproductive fitness of affected males and the gain resulting from new mutations. Here, for the first time, we directly estimate both the overall and sex-specific mutation rates for haemophilia B by detecting the gene defect of the families registered at the Malmö Haemophilia Centre. These represent a complete sample of the Swedish haemophilia B population (45 out of 77 pedigrees) and contain 23 families with a single affected male. Fifteen of these males had mothers available for study, and of these mothers, 13 had parents available for study. We show that 3 of the above patients and 10 of their mothers carry new mutations, and by extrapolation calculate that 8 males and 98 females should carry new haemophilia B mutations in the Swedish population (8.52 × 106 individuals). This leads to the following estimate of the mutation rates: overall μ = 4.1 × 10-6; male specific v = 2.1 × 10-5; and female specific u = 1.9 × 10-6. The ratio of such male to female specific mutation rates is thus v/u = 11.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00220550
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  • 5
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    DNA polymorphism of the C2 locus (1985)
    Springer
    Details
    Publication Date: 1985-10-01
    Print ISSN: 0093-7711
    Electronic ISSN: 1432-1211
    Topics: Biology , Medicine
    Published by Springer
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  • 6
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    Concentration and distribution of heavy metals in tissues of two cephalopods, Eledone cirrhosa and Sepia officinalis, from the French coast of the English Channel (1992)
    Springer
    Details
    Publication Date: 1992-11-01
    Print ISSN: 0025-3162
    Electronic ISSN: 1432-1793
    Topics: Biology
    Published by Springer
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    PAPER CURRENT
  • 7
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    Concentration and distribution of heavy metals in tissues of two cephalopods, Eledone cirrhosa and Sepia officinalis, from the French coast of the English Channel (1992)
    Springer
    In:  Marine Biology, 114 (3). pp. 407-414.
    Details
    Publication Date: 2017-04-10
    Description: The concentrations of 11 heavy metals (Ag, Cd, Co, Cr, Cu, Fe, Mn, Ni, Pb, V and Zn) were measured in the tissues (digestive gland, branchial hearts, gills, digestive tract, kidney, genital tract, muscle, skin, shell) of the two cephalopods Eledone cirrhosa (d'Orb.) and Sepia officinalis (L.) collected from the French coast of the English Channel in October 1987. The tissues of both species displayed a similar pattern of heavy-metal accumulation: the digestive gland, branchial hearts and kidney were the major sites of concentration for all 11 metals; the digestive gland accumulated silver, cadmium, cobalt, copper, iron, lead and zinc, the branchial hearts high concentrations of copper, nickel and vanadium, and the kidney high concentrations of manganese, nickel and lead. The digestive gland, which constituted 6 to 10% of the whole-animal tissue, contained 〉80% of the total body burden of Ag, Cd and Co and from 40 to 80% of the total body burden of the other metals. The ratios between heavy metal concentrations in the digestive gland and those in the muscle separated the elements into three groups, those with a ratio ≤10 (Cr, Mn, Ni, Pb, V, Zn), those with a ratio 〉10 to 〈50 (Co, Cu, Fe), and those with a ratio ≥50 (Ag, Cd). The digestive gland of cephalopods (carnivorous molluscs whose age can be easily calculated with great accuracy) would seem to constitute a good potential indicator of heavy metal concentrations in the marine environment.
    Type: Article , PeerReviewed
    Format: text
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