The overall APOE spatial pattern seems, in general, compatible with a directional demographic expansion which occurred in north-eastern Asia and much of the New World. The APOE*2 allele shows this pattern in South America but a random distribution in the Northern Hemisphere, suggesting that the possibility of selection should not be discarded.
To assess the paternal history of the Mbyá-Guaraní Amerindians of northeast Argentina, we examined the genetic variation in seven Y-chromosome loci: the binary marker M3 at locus DYS199, and six short tandem repeats (DYS19, DYS389I, DYS389II, DYS390, DYS391, and DYS393). The most striking finding is the high frequency among the Mbyá-Guaraní of Q3 lineages with the usually rare alleles DYS391*11 and DYS393*11, which could be the result of a founder effect, given the recent history of the population.
ObjectivesThe quantitation of BCR-ABL1 mRNA is mandatory for chronic myeloid leukemia (CML) patients, and RT-qPCR is the most extensively used method in testing laboratories worldwide. Nevertheless, substantial variation in RT-qPCR results makes inter-laboratory comparability hard. To facilitate inter-laboratory comparative assessment, an international scale (IS) for BCR-ABL1 was proposed.MethodsThe laboratory-specific conversion factor (CF) to the IS can be derived from the World Health Organization (WHO) genetic reference panel; however, this material is limited to the manufacturers to produce and calibrate secondary reference reagents. Therefore, we developed secondary reference calibrators, as lyophilized cellular material, aligned to the IS. Our purpose was both to re-evaluate the CF in 18 previously harmonized laboratories and to propagate the IS to new laboratories.ResultsOur field trial including 30 laboratories across Latin America showed that, after correction of raw BCR-ABL1/ABL1 ratios using CF, the relative mean bias was significantly reduced. We also performed a follow-up of participating laboratories by annually revalidating the process; our results support the need for continuous revalidation of CFs. All participating laboratories also received a calibrator to determine the limit of quantification (LOQ); 90% of them could reproducibly detect BCR-ABL1, indicating that these laboratories can report a consistent deep molecular response. In addition, aiming to investigate the variability of BCR-ABL1 measurements across different RNA inputs, we calculated PCR efficiency for each individual assay by using different amounts of RNA.ConclusionsIn conclusion, for the first time in Latin America, we have successfully organized a harmonization platform for BCR-ABL1 measurement that could be of immediate clinical benefit for monitoring the molecular response of patients in low-resource regions.
El presente trabajo tiene como objetivo contribuir al conocimiento de la historia poblacional de La Esperanza, Jujuy, en base al estudio de la diversidad y distribución relativa de linajes del ADN mitocondrial, sobre una muestra poblacional de 94 personas. Se analizaron las afinidades genéticas entre los linajes maternos encontrados en La Esperanza y 43 poblaciones sudamericanas a partir de datos tomados de la bibliografía. Los resultados muestran que los linajes nativos americanos constituyen el 100% de la muestra, siendo B2 el haplogrupo más frecuente (45%), seguido de D1, A2 y C1 con una contribución del 22%, 17% y 16%, respectivamente. Por último, un solo individuo presentó el linaje D4h3a. El análisis de distancias interpoblacionales revela bajos valores de distancia con las muestras Quechua de Huancavelica, Avá Guaraní y Pilagá. El análisis discriminante ubicó a la muestra de La Esperanza en el grupo Chaco, tanto cuando se la asignó a los grupos Chaco o Noroeste argentino, como cuando no se asignó previamente ningún grupo. En general, el análisis discriminante muestra un alto porcentaje de correcta clasificación de las poblaciones en los grupos en los que fueron asignadas inicialmente, lo que refleja la fuerte estructura geográfica de la variación genética. El análisis filogeográfico reveló vínculos genéticos con otras poblaciones del Noroeste argentino, particularmente de Jujuy y Salta y, en menor medida, con poblaciones del Gran Chaco. Los resultados obtenidos a partir de esta investigación reflejan la historia de una población surgida principalmente en torno al ingenio azucarero y a partir delaporte migratorio desde regiones vecinas de Argentina y países limítrofes, hecho que aseguró la disponibilidad de mano de obra a través del tiempo y condujo a la formación de una población con gran diversidad genética.
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