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  • 1
    Electronic Resource
    Electronic Resource
    Identification of a minor Tg mRNA transcript in RNA from normal and goitrous thyroids
    Amsterdam : Elsevier
    Molecular and Cellular Endocrinology 84 (1992), S. R23-R26 
    Details
    ISSN: 0303-7207
    Keywords: Deletion ; Molecular variant ; Polymerase chain reaction ; Thyroglobulin gene ; Thyroglobulin mRNA ; Thyroid, human
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
    URL: http://linkinghub.elsevier.com/retrieve/pii/0303-7207(92)90087-M
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  • 2
    Electronic Resource
    Electronic Resource
    Chromosome Y microsatellites: population genetic and evolutionary aspects (1997)
    Springer
    International journal of legal medicine 110 (1997), S. 134-140 
    Details
    ISSN: 1437-1596
    Keywords: Key words Y chromosome ; Haplotypes ; Evolution ; Population studies ; Genetic affinities ; STR
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine , Law
    Notes: Abstract By means of a multicenter study, a large number of males have been characterized for Y-chromosome specific short tandem repeats (STRs) or microsatellites. A complete summary of the allele frequency distributions for these Y-STRs is presented in the Appendix. This manuscript describes in more detail some of the population genetic and evolutionary aspects for a restricted set of seven chromosome Y STRs in a selected number of population samples. For all the chromosome Y STRs markedly different region-specific allele frequency distributions were observed, also when closely related populations were compared. Haplotype analyses using AMOVA showed that when four different European male groups (Germans, Dutch, Swiss, Italians) were compared, less than 10% of the total genetic variability was due to differences between these populations. Nevertheless, these pairwise comparisons revealed significant differences between most population pairs. Assuming a step-wise mutation model and a mutation frequency of 0.21%, it was estimated that chromosome Y STR-based evolutionary lines of descent can be reliably inferred over a time-span of only 1950 generations (or about 49000 years). This reduces the reliability of the inference of population affinities to a historical, rather than evolutionary time scale. This is best illustrated by the construction of a human evolutionary tree based on chromosome Y STRs in which most of the branches connect in a markedly different way compared with trees based on classical protein polymorphisms and/or mtDNA sequence variation. Thus, the chromosome Y STRs seem to be very useful in comparing closely related populations which cannot probably be separated by e.g. autosomal STRs. However, in order to be used in an evolutionary context they need to be combined with more stable Y-polymorphisms e.g. base-substitutions.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004140050052
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  • 3
    Electronic Resource
    Electronic Resource
    Evaluation of Y-chromosomal STRs: a multicenter study (1997)
    Springer
    International journal of legal medicine 110 (1997), S. 125-133 
    Details
    ISSN: 1437-1596
    Keywords: Key words Short tandem repeats ; Y chromosome ; Population analysis ; Mutation rate ; Y haplotype ; analysis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine , Law
    Notes: Abstract A multicenter study has been carried out to characterize 13 polymorphic short tandem repeat (STR) systems located on the male specific part of the human Y chromosome (DYS19, DYS288, DYS385, DYS388, DYS389I/II, DYS390, DYS391, DYS392, DYS393, YCAI, YCAII, YCAIII, DXYS156Y). Amplification parameters and electrophoresis protocols including multiplex approaches were compiled. The typing of non-recombining Y loci with uniparental inheritance requires special attention to population substructuring due to prevalent male lineages. To assess the extent of these subheterogeneities up to 3825 unrelated males were typed in up to 48 population samples for the respective loci. A consistent repeat based nomenclature for most of the loci has been introduced. Moreover we have estimated the average mutation rate for DYS19 in 626 confirmed father-son pairs as 3.2 × 10–3 (95% confidence interval limits of 0.00041–0.00677), a value which can also be expected for other Y-STR loci with similar repeat structure. Recommendations are given for the forensic application of a basic set of 7 STRs (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393) for standard Y-haplotyping in forensic and paternity casework. We recommend further the inclusion of the highly polymorphic bilocal Y-STRs DYS385, YCAII, YCAIII for a nearly complete individualisation of almost any given unrelated male individual. Together, these results suggest that Y-STR loci are useful markers to identify males and male lineages in forensic practice.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004140050051
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    Paper (German National Licenses)
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  • 4
    Electronic Resource
    Electronic Resource
    A review of the collaborative exercises on DNA typing of the Spanish and Portuguese ISFH working group (1997)
    Springer
    International journal of legal medicine 110 (1997), S. 273-277 
    Details
    ISSN: 1437-1596
    Keywords: Key words DNA polymorphisms ; Standardization ; Collaborative exercise ; Forensics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine , Law
    Notes: Abstract Since 1992 the Spanish and Portuguese Working Group (GEP) of the International Society for Forensic Haemogenetics (ISFH) has been organizing collaborative exercises on DNA profiling with the aim of making progress on standardization and discussing technical and statistical problems in DNA analysis. A total of four exercises (GEP-92 to GEP-95) have been carried out until now. A consequence of these exercises was the creation of a quality control programme in Spain and Portugal in 1995 which was carried out simultaneously with the GEP-95 exercise. The number of participating laboratories increased from 10 in the first exercise (GEP-92) to 19 in the last exercise (GEP-95). Despite this increasing number of participating laboratories, results remained satisfactory. In the last exercises, all the laboratories used PCR-based DNA polymorphisms with an increasing number of markers obtaining good results. SLPs were used by only 30% of laboratories in the last two exercises but the results indicated a good level of expertise in most of these laboratories. The reasons for these successful results are the common use of the EDNAP protocol for SLP analysis and commercially available kits or common sequenced allelic ladders for PCR-based DNA polymorphisms.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004140050084
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    Paper (German National Licenses)
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  • 5
    Electronic Resource
    Electronic Resource
    Repetitive DNA sequence homologies and amplifications in South American cricetid rodents (1990)
    Springer
    Genetica 82 (1990), S. 85-92 
    Details
    ISSN: 1573-6857
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract The extent of conservation of repetitive DNA sequences in five species of South American cricetid rodents, belonging to three tribes and genera, exhibiting clear karyological differences has been investigated. Dot blot evaluation of interspecific hybridization percentages underscored sharp discrepancies in some reciprocal assays, suggesting sequence amplification events might have taken place since the evolutionary divergence of the species studied. Southern blot analysis, employing the most intense restriction bands of three species' DNAs as radiolabeled probes, allowed to confirm the sequence amplification events initially suspected. Although homologous repetitive sequences are conserved in the genomes of the spiecies investigated, differential organization of such sequences does exist, as judged by the species-specific Southern blot patterns.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00124636
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