How is mtdna used to determine genetic ancestry

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Corresponding author. Nuno Taveira: tp. Received Jan 23; Accepted Jun This is an open access article distributed under the terms of the Creative Commons Attribution License , which permits unrestricted use, distribution, reproduction and adaptation in any medium and for any purpose provided that it is properly attributed. This article has been cited by other articles in PMC. Associated Data Data Availability Statement The following information was supplied regarding data availability: This is a review article and did not collect or generate raw data.

Abstract Mitochondrial DNA mtDNA presents several characteristics useful for forensic studies, especially related to the lack of recombination, to a high copy number, and to matrilineal inheritance. Introduction Human genetic identification for forensic purposes is achieved through the definition of genetic profiles.

Mitochondrial DNA biology and genetics Mitochondria are cellular organelles that contain an extrachromosomal genome, which is both different and separate from the nuclear genome. Open in a separate window. Figure 1. The human mitochondrial DNA genome with genes and control regions labeled. Mitochondrial DNA Nomenclature Considering that listing more than bases in order to describe the results from a new HV1 and HV2 sequence would be unpractical, an alternative approach was developed which essentially identifies and reports the differences relative to the reference sequence rCRS Anderson et al.

Lower case letters should be used to indicate mixtures between deleted and non-deleted inserted and non-inserted bases. N-designations should only be used when all four bases are observed at a single position or if no base call can be made at a given position.

The evaluation of heteroplasmy depends on the limitations of the technology and the quality of the sequencing reactions as well as the experience of the laboratory. Differences in both PHP and LHP do not constitute evidence for excluding two otherwise identical haplotypes as deriving from the same source or same maternal lineage Recommendation 11 For population database samples, length heteroplasmy in homopolymeric sequence stretches should be interpreted by calling the dominant variant, which can be determined by identifying the position with the highest representation of a non-repetitive peak downstream of the affected stretch Haplogrouping of mtDNA sequences Recommendation 12 MtDNA population data should be subjected to analytical software tools that facilitate phylogenetic checks for data quality control.

A comprehensive suite of QC tools is provided by EMPOP Databases and database searches Recommendation 13 The entire database of available sequences should be searched with respect to the sequencing interpretation range to avoid biased query results Recommendation 14 Laboratories must be able to justify the choice of database s and statistical approach used in reporting Recommendation 15 Laboratories must establish statistical guidelines for use in reporting an mtDNA match between two samples Recommendation 16 Highly variable positions such as length variants in homopolymeric stretches should be disregarded from searches for determining frequency estimates.

Heteroplasmic calls should be queried in a manner that does not exclude any of the heteroplasmic variants. Mitochondrial DNA Population Data and Databases When two mtDNA sequences, one from an evidence sample and another from a reference sample, cannot be excluded as being originated from the exact same source, it is necessary to convey some information concerning the rarity of the mtDNA profile.

Figure 2. Representation of the geographical origin of the main mtDNA haplogroups, based on Lott et al. Table 2 Selected published cases of human identification with mtDNA. Population variation of human mtDNA control region sequences detected by enzymatic amplification and sequence-specific oligonucleotide probes. Am J Hum Genet. Identification of human remains by amplification and automated sequencing of mitochondrial DNA.

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Preliminary DNA identification for the tsunami victims in Thailand. Genomics, Proteomics Bioinforma. Forensic Sci Int. Forensic Sci Int Genet. Nat Commun. J Forensic Sci. More comprehensive forensic genetic marker analyses for accurate human remains identification using massively parallel DNA sequencing. BMC Genomics. Funding Statement The authors received no funding for this work. Additional Information and Declarations Competing Interests The authors declare there are no competing interests.

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Comparison of the illumina genome analyzer and roche GS FLX for resequencing of hypertrophic cardiomyopathy-associated genes. Unlike the Y-DNA, which is only passed from father to son and not to daughters, the mtDNA is passed from the mother to all her children, including males and females. This means that people of either sex can take the test. The mtDNA test is meant for those who wish to learn more about their maternal lineage. Both males and females can take the mtDNA test to discover relatives.

Just remember, you will only be finding relatives on your maternal side. It can also be taken to understand your susceptibility to a particular disease.

This test can provide information about which country your grandmother or her mother came from. Some can go deeper to tell you the tribe or ethnic group they belong to. It can dig deeper to educate you about your long-distant maternal ancestors like your great-great-great-grandmother.

This reference sequence is often used for comparison purposes in some DNA tests. A lot is encoded in the DNA. That is, if your unique result matches that of someone else, it means you may be related to them through one of your maternal ancestors.

Thus, to better understand the science of how this test works, you must first understand the parts that the test analyzes. They include:. Some tests analyze the coding region. Sometimes, these two ends on mtDNA mutate once in fifty generations. Originally, it was expensive to sequence DNA so companies offered one or the other. However, if you need a better result with a high accuracy, you should look for laboratories that test all the parts, including the HVR1, HVR2, and the coding region.