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Determination of human Caucasian mitochondrial DNA haplogroups by means of a hierarchical approach

Santos, Cristina and Montiel, Rafael and Anglés, N. and Lima, Manuela and Francalacci, Paolo and Malgosa, Assumpció and Abade, Augusto and Aluja, Maria Pilar (2004) Determination of human Caucasian mitochondrial DNA haplogroups by means of a hierarchical approach. Human Biology, Vol. 76 (3), p. 431-453. eISSN 1534-6617. Article.

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DOI: 10.1353/hub.2004.0049

Abstract

In this paper we propose a hierarchical approach that allows the screening of mitochondrial DNA (mtDNA) haplogroups in populations that have essentially West Eurasian mtDNA backgrounds but that could have some non-West Eurasian contributions. To develop and validate this scheme, we used data on 18 coding region polymorphisms (17 analyzed by RFLP analysis and 1 by sequencing) and sequences of hypervariable segment I (HVSI) of the mtDNA control region from the Azores Islands (Portugal) population. The proposed scheme allows the characterization of almost all West Eurasian and African major clusters by means of RFLPs. Furthermore, the scheme includes information on situations in which sequencing is pertinent to defining a particular haplogroup. The validity of the scheme is ensured by (1) using relatively stable polymorphic positions, (2) screening more than one position to define a specific haplogroup, and (3) typing confirmatory positions. Dubious samples can be resolved by sequencing. The robustness of this approach was assessed by sequencing all samples for HVSI, taking advantage of the previously established relationships between RFLPs and control region sequence polymorphisms. The use of this hierarchical approach avoids the screening of unnecessary control region polymorphisms and therefore results in a more rapid and cost-efficient screening than one in which all polymorphic positions are analyzed. Even if this approach leads to a lower level of phylogeographic resolution than the sequencing of all samples, it allows us to define population movements on a continental level and can be applied, unlike sequencing all samples, with a low cost in any laboratory.

Item Type:Article
ID Code:1961
Status:Published
Refereed:Yes
Uncontrolled Keywords:Mitochondrial DNA (mtDNA), hypervariable segment I (HVSI), RFLPs
Subjects:Area 05 - Scienze biologiche > BIO/18 Genetica
Divisions:001 Università di Sassari > 01 Dipartimenti > Zoologia e genetica evoluzionistica
Publisher:Wayne State University Press
eISSN:1534-6617
Deposited On:18 Aug 2009 10:06

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