Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in Caucasians

@article{Coble2004SingleNP,
  title={Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in Caucasians},
  author={Michael D. Coble and Rebecca S. Just and Jennifer E. O’Callaghan and Ilona H. Letmanyi and Christine T. Peterson and Jodi A. Irwin and Thomas J. Parsons},
  journal={International Journal of Legal Medicine},
  year={2004},
  volume={118},
  pages={137-146}
}
We have sequenced the entire mtDNA genome (mtGenome) of 241 individuals who match 1 of 18 common European Caucasian HV1/HV2 types, to identify sites that permit additional forensic discrimination. We found that over the entire mtGenome even individuals with the same HV1/HV2 type rarely match. Restricting attention to sites that are neutral with respect to phenotypic expression, we have selected eight panels of single nucleotide polymorphism (SNP) sites that are useful for additional… 
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References

SHOWING 1-10 OF 43 REFERENCES
Increasing the forensic discrimination of mitochondrial DNA testing through analysis of the entire mitochondrial DNA genome.
TLDR
Complete mtGenome sequencing of selected HV1/HV2 types may stand as the best way for identifying maximally useful single nucleotide polymorphism sites outside of the control region.
Rapid screening of mtDNA coding region SNPs for the identification of west European Caucasian haplogroups
TLDR
This work presents a selection of 16 SNPs from the coding region of the human mitochondrial DNA, used for the assignment of individuals to one of the nine major European Caucasian mitochondrial haplogroups.
A multiplex allele-specific primer extension assay for forensically informative SNPs distributed throughout the mitochondrial genome
TLDR
A set of 11 SNPs selected for distinguishing individuals of the most common Caucasian HV1/HV2 mitotype were incorporated in an allele specific primer extension assay that performs well for heteroplasmy and mixture detection, and for typical mtDNA casework samples with highly degraded DNA.
Classification of European mtDNAs from an analysis of three European populations.
TLDR
The conclusion that most haplogroups observed in Europe are Caucasoid-specific, and that at least some of them occur at varying frequencies in different Caucasoid populations, is supported.
Characterization of the Caucasian haplogroups present in the SWGDAM forensic mtDNA dataset for 1771 human control region sequences. Scientific Working Group on DNA Analysis Methods.
TLDR
The assessment reveals that the mtDNA dataset is relevant and representative of U.S. and European Caucasians, and is evaluated for forensic utility and phylogenetic methods.
Sequence polymorphism in the coding region of mitochondrial genome encompassing position 8389-8865.
mtDNA and the origin of Caucasians: identification of ancient Caucasian-specific haplogroups, one of which is prone to a recurrent somatic duplication in the D-loop region.
TLDR
The sequence divergence of these haplogroups indicates that they arose early in Caucasian radiation and gave raise to modern European mtDNAs, suggesting that Homo sapiens sapiens displaced H. s.
Phylogenetic network for European mtDNA.
TLDR
The nucleotide sequence in the coding region of mtDNA was determined from 121 Finns, by conformation-sensitive gel electrophoresis and subsequent sequencing and by direct sequencing of the D loop, which allowed the compilation of unambiguous phylogenetic networks.
The emerging tree of West Eurasian mtDNAs: a synthesis of control-region sequences and RFLPs.
TLDR
It is shown that the main indigenous North African cluster is a sister group to the most ancient cluster of European mtDNAs, from which it diverged approximately 50,000 years ago.
Identification of human remains by immobilized sequence-specific oligonucleotide probe analysis of mtDNA hypervariable regions I and II.
TLDR
Mitochondrial DNA typing with an array of immobilized SSO probes can be a benefit to forensic DNA analysis of mass disaster remains and identity testing of single and mass graves.
...
1
2
3
4
5
...