Análisis de la diversidad genética de las regiones HVI y HVII del genoma mitocondrial en una muestra de la población  de Maracaibo, Venezuela |  Genetic diversity of HVI and HVII mitocondrial genome regions in a population sample of Maracaibo, Zulia state, Venezuela

José Quintero Ferrer; Lisbeth Borjas Fuentes; Tatiana Pardo Govea

Análisis de la diversidad genética de las regiones HVI y HVII del genoma mitocondrial en una muestra de la población de Maracaibo, Venezuela | Genetic diversity of HVI and HVII mitocondrial genome regions in a population sample of Maracaibo, Zulia state, Venezuela

José Quintero Ferrer, Lisbeth Borjas Fuentes, Tatiana Pardo Govea

Resumen

El estudio de los polimorfismos de las regiones hipervariables I y II del ADN mitocondrial se ha convertido en una herramienta invaluable para la ciencia forense, permitiendo el análisis de material biológico exiguo, así como la filiación biológica por línea materna. Con el objetivo de analizar la diversidad genética de las regiones HVI y HVII del genoma mitocondrial en la población de Maracaibo, estado Zulia, se eligieron 50 individuos, cuyos ADN se amplificaron mediante la reacción en cadena de la polimerasa, se secuenciaron las regiones hipervariables mediante método de Sanger y los fragmentos se separaron por electroforesis capilar y fueron reportadas las diferencias con respecto a la secuencia de referencia de Cambridge. La diversidad genética de ambas regiones fue de 0,9837 ± 0,0084, la diversidad nucleotídica de 0,020001 ± 0,010201, la media de las diferencias por parejas 12,160816 ± 5,588550, el poder de discriminación 0,9640 y la probabilidad de coincidencia al azar 0,0360. Estos resultados determinaron que los haplogrupos observados en las muestras analizadas correspondieran a Amerindios 68% (A 32% B 18%, C 4% y D 14%), Africanos 20% (L 20%), Europeos 8 % (H 2%, K 2% U 2%, W 2%) y Asiáticos 2% (N 2%). Los datos demuestran que los polimorfismos en las regiones HVI y HVII son suficientemente informativos como para ser utilizados en la casuística forense.

Palabras clave: ADN mitocondrial, regiones hipervariables, región control, identificación humana, población venezolana.

ABSTRACT

The study of the polymorphisms of hypervariable regions I and II of mitochondrial DNA; has become an invaluable tool for forensic science due to features like its exclusively maternal inheritance; allowing the analysis of meager biological material; as well as biological matrilineal descent. In order to analyze the genetic diversity of HVI and HVII regions of the mitochondrial genome in the population of Maracaibo; Zulia state; DNA samples from 50 persons were randomly selected; and hypervariable regions were amplified by polymerase chain reaction; subsequently sequenced by Sanger method and the fragments were separated by capillary electrophoresis; the differences were reported with respect to the Cambridge reference sequence. The genetic diversity of both regions was 0.9837 ± 0.0084; the nucleotide diversity 0.020001 ± 0.010201; Mean number of pairwise differences 12.160816 ± 5.588550; the power of discrimination 0.9640 and the random match probability of 0.0360. These results determined thathe haplogroups observed in the samples analyzed corresponded to Amerindian 68% (A 32% B 18%; C 4% and D 14%); Africans (L 20%); Europe 8 % (H 2%; K 2% U 2%; W 2%) and Asian (N 2%). The data generated from this study indicate that polymorphisms in the regions HVI and HVII are sufficiently informative to be used in forensic identification.

Key words: Mitochondrial DNA; hypervariable regions; control region; forensic identification; Venezuelan population.

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