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  • 1
    Electronic Resource
    Electronic Resource
    Disease-causing mutations in the human genome (2000)
    Springer
    European journal of pediatrics 159 (2000), S. S173 
    Details
    ISSN: 1432-1076
    Keywords: Key words Databases ; Deletions ; Gene mutations ; Insertions ; Substitutions
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A considerable number of gene mutations has now been reported in a total of more than 1000 different human genes. Data on these mutations and their associated phenotypes have been collated and are available online through two major databases: Online Mendelian Inheritance in Man in Baltimore and the Human Gene Mutation Database in Cardiff. Since the non-randomness of mutation is determined largely by the local DNA sequence environment, the study of mutation may not only yield information on underlying mechanisms but also lead to the optimization of mutation search strategies. Conclusion There is a high frequency of CG to TG or CA mutations in the human genome due to deamination of 5′methyl-cytosine. The second most common type of mutations in human disorders is short deletions or insertions of less than 20 nucleotides.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/PL00014395
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    Paper (German National Licenses)
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  • 2
    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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    Paper (German National Licenses)
    Fulltext
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