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  • 1
    Electronic Resource
    Electronic Resource
    Core database (1995)
    [s.l.] : Nature Publishing Group
    Nature 374 (1995), S. 402-402 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] SIR - The first single base-pair substitu-tion in a human gene underlying a genetic disorder was reported in 1979: a nonsense mutation in residue Lysl7 in the (3-globin gene resulting in (3-thalassaemia1. Since then, more than 3,300 different point mutations have been identified in approx-imately ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/374402b0
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  • 2
    Electronic Resource
    Electronic Resource
    Variation of site-specific methylation patterns in the factor VIII (F8C) gene in human sperm DNA (1998)
    Springer
    Human genetics 〈Berlin〉 103 (1998), S. 228-233 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The methylation status of 12 CpG sites in three exons of the human factor VIII (F8C) gene was examined by bisulphite genomic sequencing of human sperm DNA from 14 European Caucasians and Asians. Different CpG sites were found to vary in their methylation status both within and between individuals. Strand differences in methylation status were also detected at certain sites, a finding that could reflect hemi-methylation. No evidence for systematic deviations in methylation status were found between the two ethnic groups. Only a limited correlation was observed between the level of methylation of specific CpG sites in sperm DNA and their mutability, a finding that is probably attributable to the pattern of methylation observed in mature spermatocytes not being representative of that of the germline.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050810
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  • 3
    Electronic Resource
    Electronic Resource
    A novel missense mutation (Thr176→IIe) at the putative hinge of the neo N-terminus of activated protein C (1995)
    Springer
    Human genetics 〈Berlin〉 95 (1995), S. 447-450 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We describe the detection of a novel missense mutation (Thr176→Ile) that is located at the neo N-terminus of activated protein C. The Thr176→Ile substitution leads to a type 1 deficiency state. Evidence is presented suggesting that this residue plays a role in pivoting the N-terminus of protein C to fold into the oxyanion hole.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00208974
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  • 4
    Electronic Resource
    Electronic Resource
    Human Gene Mutation Database (1996)
    Springer
    Human genetics 〈Berlin〉 98 (1996), S. 629-629 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050272
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  • 5
    Electronic Resource
    Electronic Resource
    Possible association of the allele status of the CS.7/HhaI polymorphism 5′ of the CFTR gene with postnatal female survival (1997)
    Springer
    Human genetics 〈Berlin〉 99 (1997), S. 565-572 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Cystic fibrosis (CF) patients show a high degree of linkage disequilibrium between the CF transmembrane conductance regulator (CFTR) gene and polymorphisms 5′ of that gene. To determine whether the region 5′ of CFTR contains biologically important sequences, the allele frequencies of six CFTR-linked polymorphisms (metH/MspI, XV-2c/TaqI, CS.7/HhaI, KM19/PstI, MP6-d9/MspI, J44/XbaI) were determined in 417 randomly selected elderly individuals (over 75 years of age) from the Czech population. The elderly individuals were considered “escapees” of strong selective pressures that had operated during their lifetime, prior to the introduction of modern health care since 1950. The pooled allele frequencies of the analyzed marker polymorphisms in the elderly did not significantly differ from published data. However, when analyzed by sex, the allele frequencies of markers CS.7/HhaI and KM19/PstI differed significantly (P 〈 0.05) between elderly females and males. The allele frequencies of the six polymorphisms were then determined in 646 newborns and 345 young adults of reproductive age; these individuals were selected in a similar manner and drawn from the same population. In these control groups, the studied marker polymorphisms exhibited no statistically significant differences between sexes and/or between individuals of the same sex, only between different age groups. A gradual relative increase in the frequency of allele “2” of marker CS.7/HhaI was observed from newborn females to elderly women, the overall difference in allele frequencies of this marker polymorphism between newborn females and elderly women reaching statistical significance (P 〈 0.05). Interestingly, allele “2” is the major constituent of the extended “B-haplotype”, which is in strong linkage disequilibrium with common CF alleles. Taken together, our data suggest that the region spanning markers CS.7 and KM19 is associated with a genetic factor that influences postnatal female survival, providing a possible mechanism for increasing the frequency of particular mutations in the adjacent CFTR gene.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050407
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  • 6
    Electronic Resource
    Electronic Resource
    Characterization and significance of nine novel mutations in exon 16 of the neurofibromatosis type 1 (NF1) gene (1997)
    Springer
    Human genetics 〈Berlin〉 99 (1997), S. 674-676 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Nine novel mutations have been characterized as the result of screening exon 16 of the human NF1 gene in 465 unrelated neurofibromatosis type 1 patients. These lesions include three nonsense and two missense mutations, two deletions, one duplication, and one mutation in the 5′ splice site of intron 16. Although exon 16 is the largest NF1 exon, no mutations have so far been reported in this region. This apparent paucity of lesions may be due either to a reduced functional importance of exon 16 or a screening bias or both. However, consideration of the mutability of exon 16 in comparison with other exons suggests that, at least for single base pair substitutions, no such factors need be invoked. Any previous lack of exon 16 mutations in this category would be explicable in terms of a lower propensity to mutate for codons in this gene region.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050427
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  • 7
    Electronic Resource
    Electronic Resource
    The mutational demography of protein C deficiency (1995)
    Springer
    Human genetics 〈Berlin〉 96 (1995), S. 142-146 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The geographical distribution and prevalence of 256 single base-pair substitutions (105 of them being different) within the coding region of the human protein C (PROC) gene were correlated with their initial likelihoods of generation. A significant positive correlation was observed between these “mutational likelihoods” and the geographical dispersal of the PROC gene lesions within and between 16 different countries. This relationship could be attributed to the fact that, with few exceptions, high dispersal was only exhibited by CG→TG and CG→CA transitions, i.e. those substitutions that are known to arise de novo at the highest frequency. The statistical distribution of mutational likelihoods was as predicted on the basis of the PROC cDNA sequence alone, allowing however for the redundancy of the genetic code. These findings suggest (1) that genetic drift and lesion-specific selection have been of relatively minor importance in determining the mutational spectrum observed in the PROC gene and (2) that most multiple reports of particular substitutions in different geographical locations appear to reflect recurrent mutation rather than identity-by-descent.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00207369
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  • 8
    Electronic Resource
    Electronic Resource
    Locus homogeneity for cartilage-hair hypoplasia proven? (1995)
    Springer
    Human genetics 〈Berlin〉 96 (1995), S. 371-372 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00210429
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  • 9
    Electronic Resource
    Electronic Resource
    An informativity index for multilocus DNA fingerprints (1995)
    Weinheim : Wiley-Blackwell
    Electrophoresis 16 (1995), S. 16-21 
    Details
    ISSN: 0173-0835
    Keywords: DNA fingerprint ; Statistics ; Information theory ; Kinship testing ; Chemistry ; Biochemistry and Biotechnology
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology , Chemistry and Pharmacology
    Notes: An informativity index for multilocus DNA fingerprints, r, was developed. It is based upon the Shannon information that a paternal DNA fingerprint conveys about the offspring phenotype pattern. Both simulation and empirical data reveal that the index r is strongly correlated with the mean log likelihood ratio (paternity vs. nonpaternity) expected in trio cases of true paternity. Since r can be estimated from DNA fingerprints of unrelated individuals in advance, it will provide an easy means to assess the potential utility of a given probe/enzyme combination in kinship testing.
    Additional Material: 6 Ill.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1002/elps.1150160105
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  • 10
    Electronic Resource
    Electronic Resource
    A paternity case with apparently conflicting multilocus and single-locus DNA typing results (1997)
    Weinheim : Wiley-Blackwell
    Electrophoresis 18 (1997), S. 1598-1601 
    Details
    ISSN: 0173-0835
    Keywords: Paternity testing ; DNA fingerprinting ; Multilocus DNA typing ; Single-locus DNA typing ; (CAC)5-oligonucleotide probe ; Chemistry ; Biochemistry and Biotechnology
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology , Chemistry and Pharmacology
    Notes: A paternity case is presented in which DNA typing with thirteen variable number of tandem repeat (VNTR) systems was in apparent conflict with an initial multilocus DNA analysis using oligonucleotide probe (CAC)5. A dual approach was necessary, because the multilocus analysis yielded a proportion of aberrant nonmaternal offspring bands far too small and level of band-sharing too high for non-paternity. The case could finally be solved by reference to the joint likelihood ratio combining both approaches. Arguments are presented that summation of log likelihoods is indeed valid even if no information is available regarding linkage between the VNTR loci and the loci contributing to a multilocus DNA fingerprint.
    Additional Material: 2 Ill.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1002/elps.1150180919
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