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  • 1
    Electronic Resource
    Electronic Resource
    Mitochondrial heteroplasmy among maternally related individuals (2000)
    Springer
    International journal of legal medicine 113 (2000), S. 155-161 
    Details
    ISSN: 1437-1596
    Keywords: Key words Mitochondrial DNA ; Heteroplasmy ; Bottleneck ; Non-coding region ; D-loop region ; Sequencing
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine , Law
    Notes: Abstract The second hypervariable segment of the human mtDNA control region contains a homopolymeric tract of cytidines between nucleotides (nt) 303 and 315, interrupted by a thymidine at position 310, according to the Cambridge reference sequence. By direct sequencing, some individuals show blurred sequence chromatograms in this region which are not caused by a sequencing artefact but by high levels of length heteroplasmy. With respect to this length heteroplasmy ten maternally related individuals and two unrelated probands were examined. The relative proportions of length variants in the homopolymeric tract in selected individuals were determined by cloning and sequencing of multiple independent clones. All ten family members examined were heteroplasmic while the proportions of each genotype varied widely in different individuals. The size of a possible mitochondrial bottleneck during embryonic development of the offspring is discussed with respect to the changes in mitochondrial haplotypes within mother-offspring pairs. Our data are consistent with both slow and rapid segregation of mtDNAs between the generations, which would implicate a tight as well as a wide bottleneck. Therefore, a common bottleneck size in all individuals from this lineage seems to be very unlikely.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004140050288
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  • 2
    Electronic Resource
    Electronic Resource
    Location and frequency of polymorphic positions in the mtDNA control region of individuals from Germany (1998)
    Springer
    International journal of legal medicine 111 (1998), S. 67-77 
    Details
    ISSN: 1437-1596
    Keywords: Key words DNA typing ; Mitochondrial DNA ; Non-coding region ; D-loop region ; Hypervariable ; regions ; PCR ; Sequencing ; Population study
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine , Law
    Notes: Abstract In order to identify polymorphic positions and to determine their frequency in the human mitochondrial D-loop containing region, the mitochondrial DNA (mtDNA) control region of 200 unrelated individuals from Germany were amplified and directly sequenced. Sequence comparison led to the identification of 190 mitochondrial lineages as defined by 202 variable positions. The most frequently occurring lineage comprised 5 individuals, whereas 186 types of D-loop sequences were observed in only one individual. Of the sequences studied 7% are not unique but show at least one counterpart with an identical haplotype. The majority (61%) of the control regions investigated showed between four and eight nucleotide positions deviating from the reference sequence. The maximum number of deviations observed in a single control region was 18. The majority of the variable positions in the D-loop region (88%) are located within three hypervariable regions. Sequence variations are caused by nucleotide substitutions, insertions or deletions. As compared to insertions and deletions, nucleotide substitutions make up the vast majority of the mutations (90%). We have predominantly found transitions (75%) and a significantly lower frequency of transversions (15%) whereas insertions (6%) as well as deletions (4%) are rather rare. Upon sequencing the mitochondrial control region from 200 German Caucasians the genetic diversity was estimated at 0.99. The probability of two randomly selected individuals from a population having identical mtDNA types is 0.6%.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004140050117
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    mtDNA as a tool for identification of human remains (1996)
    Springer
    International journal of legal medicine 109 (1996), S. 205-209 
    Details
    ISSN: 1437-1596
    Keywords: DNA typing ; Mitochondrial DNA ; Non-coding region ; D-loop region ; PCR ; Sequencing ; Identification
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine , Law
    Notes: Abstract Two cases are presented in order to emphasize the importance of mitochondrial DNA in forensic medicine. The first case involved a charred body which could not be identified by morphological means because of severe destruction of all tissues. The parallel use of PCR methods using genomic DNA and sequencing of the mitochondrial d-loop region produced unequivocal and reproducible results. In the second case, various parts of a highly decomposed body were investigated. The application of standard PCR methods for genomic DNA proved unsuitable to answer the question whether the body parts belonged to the same body. However, when sequencing of mitochondrial DNA segments amplified from tissue and bone samples was performed, clearly interpretable results were obtained.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01225519
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    Paper (German National Licenses)
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