RESUMO
ABSTRACT The human X-chromosome non-coding markers, such as short tandem repeats (STRs), single nucleotide polymorphisms (SNPs), insertion-deletions (INDELs) and Alu insertions, are useful for revealing relationships among populations and for the identification of individuals. In the last decades, a number of studies have been performed to determine the genetic structure of Latin American populations by using X-chromosome markers. These studies provided useful information regarding the genetic composition of these populations and their relationship with Native American, Asian and European populations. One of the most interesting findings achieved by X-chromosome studies is the bias in the sex ratio of individuals that gave rise to the current Latin American populations, as it was previously observed through the analysis of uniparental markers, and which is undoubtedly evidenced in the differential inheritance of X-chromosome in comparison to autosomes. Besides, the genetic drift process that affected Native American populations is more pronounced in X-chromosome markers than in autosomes. The present review summarizes our current knowledge concerning X-chromosome non-coding polymorphisms studied in Latin American populations.
RESUMEN Los marcadores no codificantes del cromosoma X humano, como las repeticiones cortas en tándem (STR), los polimorfismos de un solo nucleótido (SNP), las inserciones-deleciones (INDEL) y las inserciones Alu, son útiles para revelar la relación existente entre poblaciones, y también para la identificación de personas. En las últimas décadas, se han realizado una serie de estudios para determinar la estructura genética de las poblaciones latinoamericanas, utilizando marcadores de cromosoma X. Estos estudios proporcionaron información útil sobre la composición genética de estas poblaciones y su relación con las poblaciones nativas americanas, asiáticas y europeas. Uno de los hallazgos más interesantes logrados en estos estudios es el sesgo en la proporción de sexos de los individuos que originaron las poblaciones latinoamericanas actuales, tal como se observó previamente a través del análisis de marcadores uniparentales, y que queda evidenciado por la herencia diferencial del cromosoma X en comparación con los autosomas. Además, el proceso de deriva genética que afectó a las poblaciones nativas americanas actuó de manera más pronunciada en los marcadores del cromosoma X que en los autosomas. La presente revisión resume nuestro conocimiento actual sobre los polimorfismos no codificantes del cromosoma X estudiados en poblaciones latinoamericanas.
RESUMO
Tacuarembó is a department located in northeastern Uruguay, whose population is the result of several migration waves from Europe and Near East, as well as Africans and Afro-descents mostly from Brazil; these waves settled with the territory's various Native ethnic groups (Charrúa, Minuán, and Guaraní). In the past, this population has been the focus of genetic studies showing this trihybrid origin, with greater contributions of Natives and Africans than in other Uruguayan regions. In this study we analyzed eight Alu insertions (A25, ACE, APOA1, B65, D1, F13B, PV92, TPA25) to provide valuable information for ancestrality and genetic differentiation and to compare with both previous studies on the Tacuarembó population and Alu frequencies in other Uruguayan populations. The European contribution to Alu and classical markers was almost equal to that of a previous study using 22 classical markers (63% vs. 65%), while African contribution was higher (30% vs. 15%), and Native American contribution shows an important difference in Alu: 7% versus 20%. We found no significant differences in genetic differentiation between Tacuarembó and Montevideo but significant differences between Tacuarembó and Basque descendants from Trinidad. Our results support previous findings obtained with classical markers that demonstrate the trihybrid composition of the Tacuarembó population, correlated with historical records. Thus, Alu insertions provide interesting information in light of the admixture process in the Uruguayan population.
Assuntos
Elementos Alu/genética , Etnicidade/genética , Testes Genéticos/métodos , Brasil/etnologia , Europa (Continente)/etnologia , Feminino , Frequência do Gene , Variação Genética , Genética Populacional/métodos , Humanos , Masculino , Oriente Médio/etnologia , Grupos Populacionais/genética , Espanha/etnologia , Uruguai/etnologiaRESUMO
This study aimed to analyze autosomal Alu insertions in three localities from Patagonia Argentina belonging to the Andes region and the coast of the Chubut province. Knowledge of the genetic diversity of these populations, along with the genealogical data, will contribute to better understand historical information, differential migration process and bio-demographic composition of the Central Patagonia region. In order to achieve this objective, 16 autosomal Alu insertion polymorphisms were genotyped: ACE, APO-A1, TPA25, FXIIIB, A25, HS4.32, D1, HS4.69, HS2.43, Sb19.12, Yb8NBC120, Sb19.3, Yb8NBC125, Ya5NBC221, DM, and CD4. Our results showed that the Central Patagonia region presents a complex continental genetic admixture with marked Native American roots (39% ± 1.2), Eurasian (56% ± 1.73) and, to a lesser extent, African (5% ± 1.7). The genetic proximity of the Patagonian samples in relation to groups from Europe and Northern Africa, but with a displacement towards the native communities, constitutes a clear indicator of the differential admixture process that took place in different regions of Argentina. Moreover, genetic differences were observed between Patagonian localities and Bahía Blanca (Central region of Argentina). These observations warned us that population genetic constitution analysis cannot be approached without bearing in mind the regional particularities, which are the result of the different historical, migratory, social-economic and demographic processes that occurs in the country.
Este estudio tiene como objetivo el análisis de las inserciones autosómicas Alu en tres localidades de la Patagonia argentina localizadas en la región andina y costera de la provincia de Chubut. El conocimiento de la diversidad genética de estas poblaciones, junto con los datos genealógicos, contribuirán a una mejor comprensión de la información histórica, los procesos migratorios diferenciales y la composición bio-demográfica de la región central Patagónica. Para alcanzar este objetivo se analizaron 16 polimorfismos autosómicos de inserción Alu: ACE, APO-A1, TPA25, FXIIIB, A25, HS4.32, D1, HS4.69, HS2.43, Sb19.12, Yb8NBC120, Sb19.3, Yb8NBC125, Ya5NBC221, DM y CD4. Nuestros resultados mostraron que la región central Patagónica presenta una mezcla genética continental compleja de marcadas raíces nativo americanas 39% (± 1.2), eurasiáticas 56% (± 1.73) y, en menor medida, africanas 5% (± 1.7). La proximidad genética de las muestras patagónicas a los grupos de Europa y del Norte de África, pero con un mayor desplazamiento hacia las comunidades nativas, constituye un claro indicador del proceso de mezcla diferencial que tuvo lugar en las distintas regiones de la Argentina. Por otra parte, las diferencias genéticas observadas entre las localidades de Patagonia y Bahía Blanca (región central de la Argentina), nos advierten que no puede analizarse la constitución genética de las poblaciones sin tener en cuenta las particularidades regionales, que son el resultado de los diferentes procesos históricos, migratorios, socio-económicos y demográficos que ocurrieron en el interior del país.
RESUMO
The aim of this study was to show how, in some particular circumstances, a physical marker can be used along with molecular markers in the research of an ancient people movement. A set of five Alu insertions was analysed in 42 subjects from a particular Tunisian group (El Hamma) that has, unlike most of the Tunisian population, a very dark skin, similar to that of sub-Saharans, and in 114 Tunisian subjects (Gabes sample) from the same governorate, but outside the group. Our results showed that the El Hamma group is genetically midway between sub-Saharan populations and North Africans, whereas the Gabes sample is clustered among North Africans. In addition, The A25 Alu insertion, considered characteristic to sub-Saharan Africans, was present in the El Hamma group at a relatively high frequency. This frequency was similar to that found in sub-Saharans from Nigeria, but significantly different from those found in the Gabes sample and in other North African populations. Our molecular results, consistent with the skin color status, suggest a sub-Saharan origin of this particular Tunisian group.
RESUMO
The aim of this study was to show how, in some particular circumstances, a physical marker can be used along with molecular markers in the research of an ancient people movement. A set of five Alu insertions was analysed in 42 subjects from a particular Tunisian group (El Hamma) that has, unlike most of the Tunisian population, a very dark skin, similar to that of sub-Saharans, and in 114 Tunisian subjects (Gabes sample) from the same governorate, but outside the group. Our results showed that the El Hamma group is genetically midway between sub-Saharan populations and North Africans, whereas the Gabes sample is clustered among North Africans. In addition, The A25 Alu insertion, considered characteristic to sub-Saharan Africans, was present in the El Hamma group at a relatively high frequency. This frequency was similar to that found in sub-Saharans from Nigeria, but significantly different from those found in the Gabes sample and in other North African populations. Our molecular results, consistent with the skin color status, suggest a sub-Saharan origin of this particular Tunisian group.