A cautionary note on switching mitochondrial DNA reference sequences in forensic genetics

2012 ◽  
Vol 6 (6) ◽  
pp. e182-e184 ◽  
Author(s):  
Antonio Salas ◽  
Michael Coble ◽  
Stijn Desmyter ◽  
Tomasz Grzybowski ◽  
Leonor Gusmão ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Forensic Genetics ◽  
Cautionary Note ◽  
Reference Sequences

Haplogrouping mitochondrial DNA sequences in Legal Medicine/Forensic Genetics

2012 ◽  
Vol 126 (6) ◽  
pp. 901-916 ◽  
Author(s):  
Hans-Jürgen Bandelt ◽  
Mannis van Oven ◽  
Antonio Salas
Keyword(s):  
Mitochondrial Dna ◽  
Dna Sequences ◽  
Forensic Genetics ◽  
Legal Medicine

DNA Commission of the International Society for Forensic Genetics: Guidelines for mitochondrial DNA typing

2000 ◽  
Vol 113 (4) ◽  
pp. 193-196 ◽  
Author(s):  
W. B�r ◽  
B. Brinkmann ◽  
B. Budowle ◽  
A. Carracedo ◽  
P. Gill ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
International Society ◽  
Forensic Genetics ◽  
Dna Typing

DNA Commission of the International Society for Forensic Genetics: guidelines for mitochondrial DNA typing

2000 ◽  
Vol 110 (2) ◽  
pp. 79-85 ◽  
Author(s):  
A Carracedo ◽  
W Bär ◽  
P Lincoln ◽  
W Mayr ◽  
N Morling ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
International Society ◽  
Forensic Genetics ◽  
Dna Typing

scholarly journals ID: 1049 Variation of mitochondrial DNA HV1 and HV2 of the Vietnamese population

2017 ◽  
Vol 4 (S) ◽  
pp. 130
Author(s):  
Linh Nguyen Quy ◽  
Le Anh Tuan Pham ◽  
Anh Hong Trinh ◽  
Thuy Thi Nguyen ◽  
Thinh Huy Tran ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Forensic Genetics ◽  
Disease Diagnosis ◽  
Sequence Polymorphism ◽  
Haplogroup Frequency ◽  
Human Mitochondrial Dna ◽  
Hypervariable Segment ◽  
Sequence Variations ◽  
Noncoding Control Region ◽  
Vietnamese Population

The sequence polymorphism of mitochondrial DNA (mtDNA) hypervariable Segment 1 (HV1) and hypervariable Segment 2 (HV2) are studied and applied to genetic diversity and human evolution assessment, forensic genetics, consanguinity determination, and mitochondrial disease diagnosis. Nucleotide sequence variations in HV1 and HV2, two hypervariable segments of the noncoding control region of human mitochondrial DNA (mtDNA), in selected ethnics of the Vietnamese population were elucidated through sequencing. In this study, we define the variations of HV1 and HV2 of 517 unrelated Vietnamese individuals in Kinh, Muong, Cham, and Khmer ethnic. We found 50 haplogroups: F1a haplogroup frequency is the highest at 15.7%; B5a haplogroup frequency is 10.8%, M haplogroup frequency is 8.9%, M7b1 haplogroup frequency is 7.7%; B6, D4e, D5a, E, F1c, F2a, F3a, G2a, M9b, N, N21 and U5a haplogroup frequencies are the lowest (1%). The frequency of SNP A263G are 100%; A73G is 99.6%, 315insC is 96%; 309insC is 56%; C16223T is 41%, and T16189C is 39%. We have assessed the genetic polymorphism of mtDNA HV1 and HV2 of 517 Kinh, Muong, Cham, Khmer ethnic samples.

Chapter 29 Mitochondrial DNA: future challenges in forensic genetics

2008 ◽  
pp. 959-967
Author(s):  
Antonio Salas ◽  
Vanesa Álvarez-Iglesias ◽  
María Cerezo ◽  
Ana Mosquera ◽  
Nuria Naverán ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Forensic Genetics ◽  
Future Challenges

Defeating numts: Semi-pure mitochondrial DNA from eggs and simple purification methods for field-collected wildlife tissues

Genome ◽  
2006 ◽  
Vol 49 (11) ◽  
pp. 1438-1450 ◽  
Author(s):  
Gabriela Ibarguchi ◽  
Vicki L. Friesen ◽  
Stephen C. Lougheed
Keyword(s):  
Mitochondrial Dna ◽  
Gradient Methods ◽  
Pcr Amplification ◽  
Cesium Chloride ◽  
Pcr Cloning ◽  
Degenerate Primers ◽  
Purification Methods ◽  
Mitochondrial Origin ◽  
Reference Sequences ◽  
Species Specific

Mitochondrial DNA (mtDNA) continues to play a pivotal role in phylogeographic, phylogenetic, and population genetic studies. PCR amplification with mitochondrial primers often yields ambiguous sequences, in part because of the coamplification of nuclear copies of mitochondrial genes (numts) and true mitochondrial heteroplasmy arising from mutations, hybridization with paternal leakage, gene duplications, and recombination. Failing to detect numts or to distinguish the origin of such homologous sequences results in the incorrect interpretation of data. However, few studies obtain purified mtDNA to confirm the mitochondrial origin of the first reference sequences for a species. Here, we demonstrate the importance and ease of obtaining semi-pure mtDNA from wildlife tissues, preserved under various typical field conditions, and investigate the success of 3 commercial extraction kits, cesium-chloride gradient mtDNA purification, long-template PCR amplification, cloning, and more species-specific degenerate primers. Using more detailed avian examples, we illustrate that unfertilized or undeveloped eggs provide the purest sources of mtDNA; that kits provide an alternative to cesium-chloride gradient methods; and that long-template PCR, cloning, and degenerate primers cannot be used to produce reliable mitochondrial reference sequences, but can be powerful tools when used in conjunction with purified mtDNA stocks to distinguish numts from true heteroplasmy.

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