Determination of Human European Mitochondrial DNA Haplogroups by Means of a Hierarchical Approach

Cristina Santos, Rafael Montiel, Natalia Angles, Manuela Lima, Paolo Francalacci, Assumpcio Malgosa, Augusto Abade, M. Pilar Aluja

Producció científica: Contribució a revistaArticleRecercaAvaluat per experts

Resum

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
Idioma originalAnglès
Pàgines (de-a)431-453
Nombre de pàgines23
RevistaHuman Biology
Volum76
Número3
DOIs
Estat de la publicacióPublicada - 2004

Fingerprint

Navegar pels temes de recerca de 'Determination of Human European Mitochondrial DNA Haplogroups by Means of a Hierarchical Approach'. Junts formen un fingerprint únic.

Com citar-ho