2004
DOI: 10.1007/s00414-004-0427-6
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Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in Caucasians

Abstract: 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 discrimination. These panel… Show more

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Cited by 198 publications
(188 citation statements)
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“…Moilanen, personal communication). On the other hand, none of the haplogroup K mtDNA sequences available through extensive population and forensic surveys, including our own 47 samples, have been shown to possess the 7598A mutation (Herrnstadt et al 2002;Coble et al 2004;unpublished data). Therefore, it is unlikely that the 7598A mutation represents a phylogenetically ancient polymorphism in this haplogroup.…”
Section: Discussionmentioning
confidence: 85%
See 1 more Smart Citation
“…Moilanen, personal communication). On the other hand, none of the haplogroup K mtDNA sequences available through extensive population and forensic surveys, including our own 47 samples, have been shown to possess the 7598A mutation (Herrnstadt et al 2002;Coble et al 2004;unpublished data). Therefore, it is unlikely that the 7598A mutation represents a phylogenetically ancient polymorphism in this haplogroup.…”
Section: Discussionmentioning
confidence: 85%
“…In addition, we surveyed more than 1,000 published full mtDNA sequences of Caucasian origin available in GenBank (Torroni et al 1996;Howell et al 2003;Moilanen et al 2003;Achilli et al 2004;Coble et al 2004), those available in the mtSNP Database, published reports of whole genome sequences (Ingman et al 2000;Kivisild et al 2002;Tanaka et al 2004), and a list of unpublished polymorphisms (MITOMAP 2005; http:// www.mitomap.org) for the 7598A/COX2 mutation. We found two mtDNAs of Caucasian origin that also carried this mutation (Fig.…”
Section: Genetic and Phylogenetic Analysismentioning
confidence: 99%
“…However, some aspects of this putative pathogenic variation, which has recently been reported in a patient of European descent with muscle weakness, ptosis and cardiomyopathy, 34 should be noted. The variation was initially observed in a European sequence, 35 but later also identified in two African sequences, 36 which resulted in its classification as a polymorphism belonging to the L2a1b haplogroup (Phylotree.org). In concurrence with this, of the five cases in our group where this variation was detected, four clustered to this haplogroup and the other to a subgroup of L0.…”
Section: Non-haplogroup-associated Mtdna Variantsmentioning
confidence: 99%
“…Full sequencing of HVI and HVII may be able to subdivide a few more of these samples but regardless many of these samples will likely remain undistinguishable from one another based on HVI and HVII sequences alone (10,21). Expansion of mtDNA sequencing and typing to the full mtDNA genome permits use of polymorphisms that occur outside the control region.…”
Section: Subdividing the Most Common Type With Coding Region Snpsmentioning
confidence: 99%
“…The presence of multiple signals within a probe region resulting from sequence heteroplasmy is described as is the absence of signal within a probe region resulting from failed hybridization of PCR products due to additional destabilizing polymorphisms. In addition, a new coding region single nucleotide polymorphism (SNP) assay was employed to help subdivide 51 individuals possessing the most common Caucasian mtDNA haplotype (10,11).…”
mentioning
confidence: 99%