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  • 1
    Online Resource
    Online Resource
    Verbundprojekt: Skalierbare HPC Lösungen zur effizienten Genomanalyse : Abschlussbericht : Berichtszeitraum: 1.6.2011-30.9.2014 (2015)
    Köln : Universität zu Köln, Rechenzentrum
    Details Availability
    Keywords: Forschungsbericht ; Sequenzanalyse
    Type of Medium: Online Resource
    Pages: 1 Online-Ressource (73 Seiten, 2,40 MB) , Illustrationen, Diagramme
    URL: https://edocs.tib.eu/files/e01fb16/859739163.pdf
    URL: https://doi.org/10.2314/GBV:859739163
    DOI: 10.2314/GBV:859739163
    Language: German
    Note: Förderkennzeichen BMBF 01IH11003A - 01IH11003F. - Verbund-Nummer 01091085 , Unterschiede zwischen dem gedruckten Dokument und der elektronischen Ressource können nicht ausgeschlossen werden
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  • 2
    Electronic Resource
    Electronic Resource
    Two recurrent nonsense mutations and a 4 bp deletion in a quasi-symmetric element in exon 37 of the NF1 gene (1995)
    Springer
    Human genetics 〈Berlin〉 96 (1995), S. 95-98 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We screened a total of 92 unrelated patients with neurofibromatosis type 1 (NF1) for mutations in exon 37 of the NF1 gene, by using temperature gradient gel electrophoresis. Two novel mutations were found: a 4 bp deletion in a so-called quasi-symmetric element (6789delTTAC) and a recurrent nonsense mutation, which was identified in two unrelated patients, at codon 2264 (C6792A). The independent origin of the latter mutation in two families was confirmed by haplotype analysis. The nonsense mutation and the 4 bp deletion are both predicted to lead to a truncated protein product lacking the Cterminal 20% (aproximately) of its sequence. The occurrence of three independent mutations among 92 NF1 patients at codons 2263–2264 (exon 37) suggests that a specific search for mutations in this area should be undertaken in screening programs for NF1 mutations.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00214193
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Changes of telomere lengths in human intracranial tumours (1993)
    Springer
    Human genetics 〈Berlin〉 91 (1993), S. 190-192 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The termini of human chromosomes comprise stretches of G-rich repeats that are about 5–20 kilobase (kb) in length. The size of the telomeres can be determined by hybridization with probes specific for these (ttaggg)n sequences after digestion of chromosomal DNA with appropriate restriction enzymes and electrophoretic separation of the fragments. Here, probing with the 32P-labelled synthetic (TTAGGG)3 oligonucleotide revealed length changes of the telomeres occurring in intracranial tumours. Among 60 samples analysed, 41.7% showed telomere elongation, and 21.7% telomere reduction, whereas 36.7% of the tumours exhibited equal lengths compared with the patients' peripheral blood leukocytes. Most of the elongated glioma telomeres exceeded in length those of untransformed astrocytes derived from human fetal tissue.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00222724
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  • 4
    Electronic Resource
    Electronic Resource
    RELP-discordance within the human phenylalanine hydroxylase locus (1989)
    Springer
    Human genetics 〈Berlin〉 83 (1989), S. 199-201 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A search for crossover events was performed in seven families with two phenylketonuria-affected children applying seven enzymes for the detection of eight restriction fragment length polymorphisms (RFLPs) by hybridisation with a human phenylalanine hydroxylase (PAH) cDNA probe. A discordance was detected within the PvuIIb-RFLP pattern of two affected sibs. This observation is most likely the result of a cross-over event in the PAH locus. Alternative explanations are discussed. Non-paternity could be excluded by DNA fingerprinting using the oligonucleotide probe (GTG)5.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00286719
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  • 5
    Electronic Resource
    Electronic Resource
    Selected di- and tetranucleotide microsatellites from chromosomes 7, 12, 14, and Y in various Eurasian populations (1994)
    Springer
    Human genetics 〈Berlin〉 93 (1994), S. 592-596 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Microsatellite polymorphisms of nine Eurasian populations (〉1200 chromosomes) were analyzed for the following loci: i) intronic (gt) n stretches of three T cell receptor (TCR) B loci on chromosome 7 (TCRBV6S1, TCRBV6S3, TCRBV6S7); ii) an intergenic (gt) n repeat in the region between the TCRDV3 and TCRAJ61 elements on chromosome 14; iii) two tetranucleotide simple repeats (D12S66, D12S67), not linked to known genes on chromosome 12; iv) a Y-chromosomal (gata) n polymorphism (DYS19). In general, allele frequencies and heterozygosity rates were similar, but specific alleles were missing in one or more populations. Distinct DYS19 alleles predominated in particular cohorts. Different allele frequencies were observed for the TCR loci in European and Asian populations. Tetranucleotide polymorphisms were distributed normally, whereas TCR alleles displayed bimodal frequency profiles. For TCRBV6S1 and TCRBV6S7, this profile reflects a diallelic protein polymorphism that correlates exactly with the length of the intronic repeats.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00202830
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  • 6
    Electronic Resource
    Electronic Resource
    Power and limits of DNA-profiling in primate populations: Paternity assessment in rhesus macaques from Cayo Santiago (1993)
    Springer
    Primates 34 (1993), S. 395-402 
    Details
    ISSN: 0032-8332
    Keywords: DNA fingerprinting ; Oligonucleotides ; Paternity assessment ; Heterozygosity ; Rhesus monkeys
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract Paternity testing was performed in one social group (S) of rhesus macaques from Cayo Santiago, Puerto Rico. In 11/15 cases, sires could be identified comparing the multilocus DNA profiles of 19 males to those of the corresponding mother/child dyads. All 19 males could be excluded from paternity in the remaining four cases. Decision making was partly based on likelihoods of DNA profiles, and the theoretical model underlying these calculation is described. In a second social group (M), held in captivity, paternity testing was impeded by a deficit of maternal bands and by an increased extent of band sharing of mothers and their infants. Some possible explanations for these findings, including increased homozygosity in group M, are discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02382635
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  • 7
    Electronic Resource
    Electronic Resource
    Male rank, reproductive behavior, and reproductive success in free-ranging rhesus macaques (1993)
    Springer
    Primates 34 (1993), S. 481-489 
    Details
    ISSN: 0032-8332
    Keywords: Macaca mulatta ; Cayo Santiago ; DNA fingerprinting ; Paternity ; Mating success ; Dominance
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract Paternity assessment through DNA fingerprinting by synthetic oligonucleotide probes was applied to one birth cohort in a social group of free-ranging rhesus macaques (Macaca mulatta) on Cayo Santiago. The 11 group males and 9 males from other groups were observed mating with the females. Paternity was determined for 11 of the 15 infants. Male dominance rank was not associated with reproductive success. High-ranking resident males (N=5) sired 27% of the infants born during a one-year study. Four of the 11 infants of known paternity were sired by males of other social groups. The four infants of unknown paternity were sired either by males not observed mating with the females or the low-ranking male who was not fingerprinted. Male dominance rank was not associated with reproductive activity during conception cycles. These results suggest that the effect of rank on male reproductive success is not a predictable correlation, but a conditional probability.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02382659
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  • 8
    Electronic Resource
    Electronic Resource
    Maternal investment in rhesus macaques (Macaca mulatta): reproductive costs and consequences of raising sons (2000)
    Springer
    Behavioral ecology and sociobiology 48 (2000), S. 1-11 
    Details
    ISSN: 1432-0762
    Keywords: Key words Macaca mulatta ; Maternal investment ; Sex ratio ; Paternity
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract  Maternal investment in offspring is expected to vary according to offspring sex when the reproductive success of the progeny is a function of differential levels of parental expenditure. We conducted a longitudinal investigation of rhesus macaques to determine whether variation in male progeny production, measured with both DNA fingerprinting and short tandem repeat marker typing, could be traced back to patterns of maternal investment. Males weigh significantly more than females at birth, despite an absence of sex differences in gestation length. Size dimorphism increases during infancy, with maternal rank associated with son’s, but not daughter’s, weight at the end of the period of maternal investment. Son’s, but not daughter’s, weight at 1 year of age is significantly correlated with adult weight, and male, but not female, weight accounts for a portion of the variance in reproductive success. Variance in annual offspring output was three- to fourfold higher in males than in females. We suggest that energetic costs of rearing sons could be buffered by fetal delivery of testosterone to the mother, which is aromatized to estrogen and fosters fat accumulation during gestation. We conclude that maternal investment is only slightly greater in sons than in daughters, with mothers endowing sons with extra resources because son, but not daughter, mass has ramifications for offspring sirehood. However, male reproductive tactics supersede maternal investment patterns as fundamental regulators of male fitness.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002650000204
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