Is it possible to differentiate mtDNA by means of HVIII in samples that cannot be distinguished by sequencing the HVI and HVII regions?

Lutz, Sabine; Wittig, Holger; Weisser, Hans-Joachim; Heizmann, J; Junge, A.; Dimo-Simonin, N.; Parson, Walther; Edelmann, Jeanett; Anslinger, Katja; Jung, Sunghwan; Augustin, Christa

doi:10.1016/s0379-0738(00)00222-x

Cited by 59 publications

(45 citation statements)

References 11 publications

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“…Other regions within the control region are sometimes targeted (Lutz et al 2000), and only recently has the suggestion been made that variation within the mtDNA coding region could also have forensic utility (Parsons and Coble 2001;Lutz-Bonengel et al 2003). With reference to the HV1/HV2 sequencing that is most commonly performed, we can examine the random match probability within the Caucasian population.…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2004

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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 panels were selected to be suitable for multiplex SNP typing assays, with 7-11 sites per panel. The panels are specific for one or more of the common HV1/HV2 types (or closely related types), permitting a directed approach that conserves limiting case specimen extracts while providing a maximal chance for additional discrimination. Discrimination provided by the panels reduces the frequency of the most common type in the European Caucasian population from approximately 7% to approximately 2%, and the 18 common types we analyzed are resolved to 105 different types, 55 of which are seen only once.

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Section: Introductionmentioning

confidence: 99%

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

et al. 2004

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“…It is noteworthy that CA dinucleotide repeats between nucleotide position 514 and 523 in HV3 (third hypervariable region) show length variability like STRs (short tandem repeats) in nuclear DNA [11,12,13], and the genetic diversity is relatively high. As this length polymorphism was expected to provide additional information for forensic purposes with simple genotyping methods as for STR analysis, i.e.…”

Section: Introductionmentioning

confidence: 99%

Mitochondrial DNA CA dinucleotide repeats in Koreans: the presence of length heteroplasmy

et al. 2004

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The mitochondrial DNA HV3 region contains CA dinucleotide repeats which display length polymorphism. To analyze this for forensic purposes, we designed a fluorescence-labelled PCR primer set for short amplification products and carried out genotyping by using capillary electrophoresis. A total of 4 alleles with 4-7 repeat units were observed and the genetic diversity was estimated to be 0.5120 in 500 unrelated Koreans. Interestingly, three individuals showed two or three length variants, i.e. length heteroplasmy.

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“…Population studies published in the literature [18,25,29] and databases [4,21,26,27,38] may be helpful to obtain information on whether a specific haplotype is rare enough to perform a screening. Mention should also be made of the opportunity to subtype mtDNA of a more frequent haplotype with regard to HV1 and HV2, using further d-loop polymorphisms [17,19,24,36] and even SNPs in the coding area [6,8,20,30]. Plus signs (+) indicate cleavage of a polymorphic restriction site in the amplicon a The existence of a non-polymorphic restriction site…”

Section: Discussionmentioning

confidence: 99%

Forensic mass screening using mtDNA

Szibor

Plate

Schmitter³

et al. 2006

Int J Legal Med

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At the forensic autopsy of a sexual murder victim, some trace hairs, possibly belonging to the perpetrator, were saved. Initially, the analysis of a pubic hair shaft only revealed the presence of the mitochondrial (mt) DNA haplotype profile consisting of the (CA)(6) allele and the complete hypervariable region 1 (HV1) and 2 (HV2) sequence. Later, typing of some further telogene trace hairs, which had been stored for several years, yielded a nuclear short tandem repeat (STR) profile. We used both the mtDNA haplotype and the STR profile to start a DNA mass screening project involving 2,335 male citizens of the relevant communities. MtDNA screening was carried out by using the CA repeat amplification in combination with an SNP typing procedure based on the restriction site analysis of amplified d-loop sequences. The aim of our paper is to put mass screening with mtDNA up for discussion.

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Is it possible to differentiate mtDNA by means of HVIII in samples that cannot be distinguished by sequencing the HVI and HVII regions?

Cited by 59 publications

References 11 publications

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

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

Mitochondrial DNA CA dinucleotide repeats in Koreans: the presence of length heteroplasmy

Forensic mass screening using mtDNA

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