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  • 1
    Electronic Resource
    Electronic Resource
    Familial amyloidotic polyneuropathy: transthyretin (prealbumin) variants in kindreds of Italian origin (1988)
    Springer
    Human genetics 〈Berlin〉 80 (1988), S. 341-343 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary As part of an epidemiological study that aims to characterize chemically the mutation(s) in transthyretin (TTR) related to familial amyloidotic polyneuropathy (FAP) of different ethnic origins, studies were carried out on TTR from two FAP kindreds of Italian origin. Two different criteria were employed in the characterization of TTR from these kindreds: (1) immunoblotting of cyanogen bromide fragments for screening of TTR(Met30) and (2) isoelectric focusing. TTR(Met30) was not detected but other substitutions were demonstrated using isoelectric focusing techniques. One of the variants found is a basic TTR variant. The substitutions occurring in the variant TTRs of these two kindreds are not known and are presently under study.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00273648
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  • 2
    Electronic Resource
    Electronic Resource
    Prenatal diagnosis of familial amyloidotic polyneuropathy: evidence for an early expression of the associated transthyretin methionine 30 (1990)
    Springer
    Human genetics 〈Berlin〉 85 (1990), S. 623-626 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Transthyretin methionine 30 (TTR Met 30), which is associated with familial amyloidotic polyneuropathy, originates in a single base substitution (A for G) in the second exon of the TTR gene. This autosomal dominant disease can be diagnosed by RFLP analysis of NsiI-digested DNA. The amplification of DNA by PCR improves the diagnosis method, making it suitable for prenatal diagnosis. Using PCR-amplified DNA, prenatal diagnosis of two at-risk fetuses was performed. Control Met 30 and normal DNA (either genomic or produced by site directed mutagenesis) were processed in parallel. The diagnosis was made by hybridization with allele-specific oligonucleotide probes, and later confirmed by screening of the mutant protein in the amniotic fluid and, when possible, in the sera from the newborns. TTR Met 30 was detected in the amniotic fluid of a positive fetus whose father was the carrier of the mutation. This indicates that the mutant protein is expressed very early in development.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00193586
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  • 3
    Electronic Resource
    Electronic Resource
    Haplotype analysis of familial amyloidotic polyneuropathy (1989)
    Springer
    Human genetics 〈Berlin〉 82 (1989), S. 9-13 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Familial amyloidotic polyneuropathy (FAP) is an autosomal dominant genetic disease characterized by systemic accumulation of amyloid fibrils. A major component of FAP anyloid has been identified as variant transthyretin (TTR, also called prealbumin). In particular, a variant with the substitution 30Val→Met has been commonly found in FAP of various ethnic groups. To understand the origin and spread of the Val→Met mutation, we analyzed DNA polymorphisms associated with the TTR gene in six Japanese FAP families and several Portuguese FAP patients. Three distinct haplotypes associated with the Val→Met mutation were identified in Japanese FAP families, one of which was also found in Portuguese patients. On the other hand, it was found that the Val→Met mutation can be explained by a C-T transition at the CpG dinucleotide sequence of a mutation hot spot. Thus, our findings indicate that the Val→Met mutation has probably recurred in the human population, to generate FAP families of independent origin.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00288262
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  • 4
    Electronic Resource
    Electronic Resource
    Haplotype analysis of common transthyretin mutations (1995)
    Springer
    Human genetics 〈Berlin〉 96 (1995), S. 350-354 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The most frequent transthyretin (TTR) variant associated with hereditary amyloidosis is TTR Met 30, which has its major focus in Portugal, although it also occurs in many other countries. The distribution of the mutation and its occurrence in a CpG dinucleotide lead us to question the origin of the mutation and the possibility of its having originated in Portugal. In order to investigate these questions, we studied the distribution of haplotypes associated with the Met 30 mutation in families from different European countries. All the analysed Portuguese families presented the same haplotype associated with the Met 30 mutation (haplotype I). The same was found for the Swedish and Spanish families studied. However, a distinct haplotype (haplotype III) was found in three families, one Italian, one English and one Turkish. These results suggest that, although the Portuguese Met 30 carriers might have one founder, the mutation probably recurred in populations in Europe in a similar manner to that reported in Japan. In this study, we have also analysed the haplotypes associated with other TTR variants frequent in the Portuguese population.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00210422
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  • 5
    Electronic Resource
    Electronic Resource
    Elements of a certification system for forestry-based carbon offset projects (2000)
    Springer
    Mitigation and adaptation strategies for global change 5 (2000), S. 39-50 
    Details
    ISSN: 1573-1596
    Keywords: additionality ; baselines ; carbon sequestration ; certification ; risk ; sinks ; verification
    Source: Springer Online Journal Archives 1860-2000
    Topics: Energy, Environment Protection, Nuclear Power Engineering , Geography
    Notes: Abstract Implementation of the Kyoto Protocol will require theestablishment of procedures for monitoring,verification and certification of carbon offsetprojects. In this paper, the steps required forindependent certification of forestry-based carbonoffset projects are reviewed, based on the proceduresused by the international certification companySociété Générale de Surveillance.Firstly, a project must be evaluated for itssuitability in relation to eligibility criteria of theKyoto Protocol. These eligibility criteria areclassified under four headings: (a) acceptability tohost country parties and international agreements; (b)additionality, in terms of demonstrated positivegreenhouse gas effects additional to the`business-as-usual' case; (c) externalities orunwanted side effects; and, (d) capacity to implementproject's activities. Secondly, the scientificmethodology for calculating the carbon offsets and themethodology for data collection and statisticalanalysis must be evaluated. Additionally, the amountof carbon offsets quantified must be adjusted toreflect the uncertainty associated with themethodology and data used. Only when these steps havebeen completed can carbon offsets be certified.Finally, the paper discusses the importance ofstandardization of methods and procedures used forproject monitoring and verification, and the need foraccreditation to ensure that the activities ofcertifiers are regulated.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1009656501414
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