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Análisis de 27 marcadores STR del cromosoma Y en poblaciones de la selva del Perú
Analysis of 27 STR markers of the chromosome Y in the population of the jungle from Peru
Carlos David Neyra-Riveraa,
Autor para correspondencia
carlosdavidmp@outlook.es

Autor para correspondencia.
, Cristian Saul Robles Mamanib, Edgardo Delgado Ramosc, Margarita Rosa Eugenia Velasquez Reinosod, Bruce Budowlee
a Escuela de Posgrado, Universidad Privada Norbert Wiener, Lima, Perú
b Posgrado de Ciencias Biológicas, Universidad Nacional Mayor de San Marcos, Ciudad Universitaria Cercado de Lima, Lima, Perú
c Unidad de Biología Molecular y de Genética, Instituto de Medicina Legal y Ciencias Forenses del Ministerio Público, Lima, Perú
d Facultad de Ciencias Biologicas, Universidad Nacional Mayor de San Marcos, Ciudad Universitaria Cercado de Lima, Lima, Perú
e Departamento de Medicina Forense, Universidad de Helsinki, Helsinki, Finlandia
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    "textoCompleto" => "<span class="elsevierStyleSections"><span id="s0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="st0025">Introducci&#243;n</span><p id="p0005" class="elsevierStylePara elsevierViewall">Los marcadores de repetici&#243;n corta en t&#225;ndem del cromosoma Y &#40;Y-STR&#41; se encuentran en regiones no recombinantes del cromosoma Y&#44; en el &#225;mbito forense son relevantes por su herencia por la l&#237;nea paterna&#44; la detecci&#243;n en las muestras que presentan combinaci&#243;n de ADN de m&#225;s de 2 individuos del sexo masculino o la combinaci&#243;n con ADN del sexo femenino&#44; a&#250;n cuando se encontrasen en cantidades muy bajas respecto al ADN femenino&#46; Estas propiedades hacen de los Y-STR una herramienta &#250;til en investigaciones de agresi&#243;n sexual&#44; pruebas de paternidad y otros delitos violentos<a class="elsevierStyleCrossRef" href="#bb0005"><span class="elsevierStyleSup">1</span></a>&#46;</p><p id="p0010" class="elsevierStylePara elsevierViewall">El continente americano fue uno de los &#250;ltimos en ser colonizados por humanos&#44; probablemente por una peque&#241;a poblaci&#243;n hace 15&#46;000 a 17&#46;000 a&#241;os&#46; Sin embargo&#44; hoy alberga una gran diversidad cultural y ling&#252;&#237;stica<a class="elsevierStyleCrossRef" href="#bb0010"><span class="elsevierStyleSup">2</span></a>&#46;</p><p id="p0015" class="elsevierStylePara elsevierViewall">Uno de los pa&#237;ses m&#225;s diversos de Am&#233;rica Latina es el Per&#250;&#46; La Regi&#243;n Amaz&#243;nica o selva cubre alrededor del 60&#37; del territorio peruano&#46; Su topograf&#237;a es predominantemente plana&#46; Se ubica al este de la Cordillera de los Andes y forma parte de la &#171;Hoya Amaz&#243;nica&#187;<a class="elsevierStyleCrossRef" href="#bb0015"><span class="elsevierStyleSup">3</span></a>&#93;&#46; El Instituto Nacional de Estad&#237;stica e Inform&#225;tica indica que la poblaci&#243;n ind&#237;gena de la Amazon&#237;a en el Per&#250; es de 332&#46;975 habitantes<a class="elsevierStyleCrossRef" href="#bb0020"><span class="elsevierStyleSup">4</span></a>&#46; Existen 13 familias ling&#252;&#237;sticas ind&#237;genas asentadas en la Amazon&#237;a&#44; que a su vez se agrupan en 60 grupos &#233;tnicos&#46; De las 13 familias ling&#252;&#237;sticas&#44; la arahuaca comprende la mayor&#237;a de la poblaci&#243;n ind&#237;gena &#40;38&#44;6&#37;&#41; y tacana la m&#225;s peque&#241;a &#40;0&#44;2&#37;&#41;<a class="elsevierStyleCrossRef" href="#bb0020"><span class="elsevierStyleSup">4</span></a>&#46; Estas regiones en su mayor&#237;a son inh&#243;spitas y por su cultura no permiten tomarse muestras biol&#243;gicas y es dificultoso conseguir su aceptaci&#243;n para enrolarse a estudios de investigaci&#243;n&#46;</p><p id="p0020" class="elsevierStylePara elsevierViewall">En los &#250;ltimos a&#241;os&#44; han ido apareciendo estudios de marcadores STR autos&#243;micos en poblaciones peruanas encontr&#225;ndose estudios en poblaciones mestizas<a class="elsevierStyleCrossRefs" href="#bb0025"><span class="elsevierStyleSup">5&#8211;8</span></a>&#44; una poblaci&#243;n de la selva del Per&#250;<a class="elsevierStyleCrossRef" href="#bb0050"><span class="elsevierStyleSup">9</span></a>&#44; tambi&#233;n se centraron en algunos grupos &#233;tnicos del Per&#250; como los Aymara<a class="elsevierStyleCrossRef" href="#bb0045"><span class="elsevierStyleSup">10</span></a> y con Y-STR en una poblaci&#243;n Ashaninca &#40;n &#61; 54&#41;<a class="elsevierStyleCrossRef" href="#bb0055"><span class="elsevierStyleSup">11</span></a> y Aymara &#40;n &#61; 90&#41;<a class="elsevierStyleCrossRef" href="#bb0060"><span class="elsevierStyleSup">12</span></a> con 27 Y-STR y otros estudios en el que analizan 23 Y-STR en una poblaci&#243;n Chachapoyas &#40;n &#61; 68&#41;&#44; J&#237;baro &#40;n &#61; 23&#41; y Huancas &#40;n &#61; 10&#41;<a class="elsevierStyleCrossRef" href="#bb0065"><span class="elsevierStyleSup">13</span></a>&#44; pero no se han realizado estudios en las poblaciones de la selva peruana con un muestra mayor a 100 individuos y con 27 Y-STR&#46; Por esta raz&#243;n&#44; en el estudio realizado se logra incrementar la evidencia cient&#237;fica sobre la distribuci&#243;n de frecuencias y el comportamiento en poblaciones peruanas escasamente estudiadas hasta la fecha&#44; de un n&#250;mero de polimorfismos Y-STR de uso consolidado en gen&#233;tica forense y de poblaciones&#46;</p></span><span id="s0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="st0030">Material y m&#233;todos</span><span id="s0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="st0035">Muestras y experimentos</span><p id="p0025" class="elsevierStylePara elsevierViewall">Se colectaron 141 muestras de individuos residentes en la selva del Per&#250; en tarjetas tipo FTA &#40;Copan&#41;&#46; Del total de muestras&#44; 104 procedieron de Iquitos &#40;Departamento de Loreto&#59; 3&#176;45&#8242;19&#8243;S&#44; 73&#176;14&#8242;57&#8243;O&#41;&#44; 29 de Awajun &#40;Departamento de Amazonas&#59; 4&#176;34&#8242;59&#8243;S&#44; 77&#176;54 &#8242;0&#8243; O&#41; y 8 de Tambopata &#40;Departamento de Madre de Dios&#59; 12&#176;40&#39;18&#46;9&#8221; S 69&#176;21&#46;328&#39; O&#41; &#40;<a class="elsevierStyleCrossRef" href="#f0005">fig&#46; 1</a>&#41;&#46; Solo se tomaron muestras a 8 individuos de Tambopata debido a la familiaridad que exist&#237;a entre sus pobladores&#44; asimismo por su aislamiento geogr&#225;fico y dificultades en el muestreo&#46; Los criterios de inclusi&#243;n considerados fueron&#58; que no exista parentesco entre ellos&#44; que sean hombres mayores de 18 a&#241;os y que hayan nacido en la selva peruana &#40;con padres y abuelos de la selva&#41;&#46; Dentro de los criterios de exclusi&#243;n tenidos en consideraci&#243;n se encuentran que sean inmigrantes de la costa o sierra del Per&#250;&#44; que tengan v&#237;nculo de parentesco por l&#237;nea paterna&#44; con apellidos similares y que hayan recibido transfusi&#243;n sangu&#237;nea o trasplante de m&#233;dula en los &#250;ltimos 6 meses&#46; Antes de participar en el estudio&#44; las personas firmaron libre y voluntariamente su consentimiento informado&#46;</p><elsevierMultimedia ident="f0005"></elsevierMultimedia><p id="p0030" class="elsevierStylePara elsevierViewall">Se extrajo un <span class="elsevierStyleItalic">punch</span> de 1&#44;2 mm de cada tarjeta y se amplific&#243; mediante PCR directa utilizando el Yfiler&#8482; Plus PCR Amplification Kit &#40;Life Technologies&#41; siguiendo las instrucciones del fabricante&#46; Los productos amplificados se analizaron empleando electroforesis capilar en el Applied Biosystem&#8482; 3500XL Genetic Analyzer &#40;Life Technologies&#41; siguiendo el protocolo recomendado por el fabricante&#46; Despu&#233;s de la electroforesis capilar&#44; los datos se importaron al software GeneMapper&#174; ID-X v1&#46;5 para generar los perfiles gen&#233;ticos&#46; Los datos fueron depositados en la base de datos &#40;n&#250;mero de acceso de la poblaci&#243;n Awajun&#58; YA005891 y n&#250;mero de acceso de la poblaci&#243;n de Iquitos&#58; YA004763&#41;&#46;</p></span><span id="s0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="st0040">An&#225;lisis estad&#237;stico</span><p id="p0035" class="elsevierStylePara elsevierViewall">Para el c&#225;lculo de las frecuencias al&#233;licas de los 27 Y-STR&#44; se utiliz&#243; el software Power Stats V1&#46;2 en 23 STR&#59; para los marcadores DYS385a&#47;b y DYF387S1 las frecuencias &#171;tipo&#187; se calcularon por el m&#233;todo de conteo&#46; La diversidad gen&#233;tica &#40;GD&#41; y la diversidad de haplotipos &#40;HD&#41; se calcularon con las siguientes f&#243;rmulas GD &#61; &#40;n&#47;n &#8722; 1&#41; &#40;1 &#8722; &#931;P&#7984;<span class="elsevierStyleSup">2</span>&#41; y HD &#61; &#40;n&#47;n &#8722; 1&#41; &#40;1 &#8722; &#931;X&#7984;<span class="elsevierStyleSup">2</span>&#41;&#44; donde P&#7984; es la frecuencia del alelo &#7984;&#44; n es el n&#250;mero de muestras analizadas&#44; X&#7984; representa la frecuencia calculada del haplotipo &#7984;<a class="elsevierStyleCrossRef" href="#bb0070"><span class="elsevierStyleSup">14</span></a>&#46; La probabilidad de una coincidencia aleatoria &#40;MP&#41; se calcul&#243; como MP &#61; &#931;X&#7984;<span class="elsevierStyleSup">2</span> y la capacidad de discriminaci&#243;n &#40;DC&#41; se obtuvo dividiendo el n&#250;mero de diferentes haplotipos observados y la suma total del n&#250;mero de haplotipos identificados&#46; La probabilidad de coincidencia haploide &#40;HMP&#41; se calcul&#243; con la f&#243;rmula HMP &#61; 1 &#8722; HD&#46; Se utiliz&#243; el an&#225;lisis de variancia molecular &#40;AMOVA&#41; para obtener valores de distancia gen&#233;tica por pares &#40;Rst&#41; entre conjuntos de datos Y-STR&#46; Los valores de Rst se usaron luego para el an&#225;lisis de escalado multidimensional &#40;MDS&#41;&#46; La Rst y los valores de p entre diferentes poblaciones se estimaron mediante an&#225;lisis de variancia molecular &#40;AMOVA&#41; y se visualizaron en un gr&#225;fico de escala multidimensional &#40;MDS&#41; &#40;accedido a trav&#233;s de YHRD&#41;<a class="elsevierStyleCrossRef" href="#bb0075"><span class="elsevierStyleSup">15</span></a>&#46;</p></span></span><span id="s0025" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="st0045">Resultados y discusi&#243;n</span><span id="s0030" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="st0050">Frecuencias al&#233;licas&#44; diversidad gen&#233;tica y variaci&#243;n al&#233;lica para la poblaci&#243;n de la selva</span><p id="p0040" class="elsevierStylePara elsevierViewall">Este estudio analiz&#243; 141 muestras de individuos de sexo masculino de la poblaci&#243;n de la selva del Per&#250;&#46; En todas las muestras&#44; los 27 Y-STR proporcionaron resultados de tipificaci&#243;n y no se observaron alelos nulos&#46; Las frecuencias de alelos &#40;o tipos&#41; para cada locus del conjunto de datos combinados se muestran en la <a class="elsevierStyleCrossRef" href="#t0005">tabla 1</a> y la <a class="elsevierStyleCrossRef" href="#t0010">tabla 2</a>&#46; Los marcadores DYS391 y DYS437 ten&#237;an la menor cantidad de alelos &#40;3 alelos&#41;&#44; mientras que el marcador DYS385a&#47;b ten&#237;a la mayor cantidad &#40;25 tipos&#41;&#46; Los valores de GD estuvieron entre 0&#44;3169 &#40;DYS437&#41; y 0&#44;9192 &#40;DYF387S1&#41; y solo 5 loci Y-STR tuvieron valores inferiores a 0&#44;5 &#40;DYS437&#44; DYS391&#44; DYS438&#44; DYS393 y DYS392&#41;&#46; Los 3 marcadores con mayor diversidad&#44; basados en GD&#44; fueron DYS449 &#40;0&#44;8037&#41;&#44; DYS385a&#47;b &#40;0&#44;8250&#41; y DYF387S1 &#40;0&#44;9192&#41;&#44; mientras que la diversidad m&#225;s baja se observ&#243; en el marcador DYS437 &#40;0&#44;3169&#41;&#46;</p><elsevierMultimedia ident="t0005"></elsevierMultimedia><elsevierMultimedia ident="t0010"></elsevierMultimedia></span><span id="s0035" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="st0055">Frecuencias al&#233;licas&#44; diversidad gen&#233;tica y variaci&#243;n al&#233;lica para la poblaci&#243;n de Iquitos</span><p id="p0045" class="elsevierStylePara elsevierViewall">Se analizaron 104 muestras de individuos de sexo masculino de la poblaci&#243;n de Iquitos&#46; Las frecuencias de alelos &#40;o tipos&#41; se muestran en la <a class="elsevierStyleCrossRef" href="#t0005">tabla 1</a>&#46; Los marcadores DYS391 y DYS437 tuvieron la menor cantidad de alelos &#40;3 alelos&#41;&#44; mientras que el marcador DYF387S1 tiene la mayor cantidad de tipos &#40;24 tipos&#41;&#46; Los valores de GD estuvieron entre 0&#44;231 &#40;DYS635&#41; y 0&#44;938 &#40;DYF387S1&#41; y 7 loci Y-STR tuvieron valores inferiores a 0&#44;5 &#40;DYS437&#44; DYS391&#44; DYS393&#44; DYS392&#44; DYS438&#44; DYS533 y DYS460&#41;&#46; Los 2 marcadores con mayor diversidad&#44; basados en GD&#44; fueron DYS385a&#47;b &#40;0&#44;8738&#41; y DYF387S1 &#40;0&#44;9375&#41;&#44; mientras que la diversidad m&#225;s baja se observ&#243; en el marcador DYS635 &#40;0&#44;2309&#41;&#46;</p></span><span id="s0040" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="st0060">Frecuencias al&#233;licas&#44; diversidad gen&#233;tica y variaci&#243;n al&#233;lica para la poblaci&#243;n Awajun</span><p id="p0050" class="elsevierStylePara elsevierViewall">Se analizaron 29 muestras de individuos del sexo masculino de la poblaci&#243;n Awajun&#46; Las frecuencias al&#233;licas se muestran en la <a class="elsevierStyleCrossRef" href="#t0010">tabla 2</a>&#46; Los marcadores DYS635&#44; DYS448 y DYS437 tuvieron la menor cantidad de alelos &#40;un alelo&#41;&#44; mientras que el marcador DYF387S1 tuvo la mayor cantidad de tipos &#40;6 tipos&#41;&#46; Los valores de GD oscilaron entre 0&#44;000 &#40;DYS635&#41; y 0&#44;7094 &#40;DYS449&#41; y 12 loci Y-STR ten&#237;an valores inferiores a 0&#44;5 &#40;DYS635&#44; DYS448&#44; DYS437&#44; DYS392&#44; DYS391&#44; DYS576&#44; DYS438&#44; DYS460&#44; DYS389I&#44; DYS394&#44; etc&#46;&#41;&#46; El marcador con mayor diversidad&#44; basado en GD&#44; fue DYS449 &#40;0&#44;7094&#41;&#44; mientras que la diversidad m&#225;s baja se observ&#243; en los marcadores DYS635&#44; DYS448 y DYS437 &#40;0&#44;0000&#41;&#46;</p></span><span id="s0045" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="st0065">Diversidad haplot&#237;pica</span><p id="p0055" class="elsevierStylePara elsevierViewall">Se identificaron 106 haplotipos distintos del total de muestras analizadas &#40;n &#61; 141&#41; con valores HD y DC de 0&#44;991 y 0&#44;752&#44; respectivamente &#40;<a class="elsevierStyleCrossRef" href="#t0015">tabla 3</a>&#41;&#46; En la poblaci&#243;n de Iquitos &#40;n &#61; 104&#41;&#44; se observaron 87 haplotipos distintos con valores de HD y DC de 0&#44;996 y 0&#44;837&#44; respectivamente&#46; En la poblaci&#243;n de Awajun &#40;n &#61; 29&#41; se observaron 18 haplotipos distintos con valores de HD y DC de 0&#44;904 y 0&#44;621&#44; respectivamente&#46; Se observ&#243; un haplotipo 12 veces &#40;9 veces en Awajun y 3 veces en Iquitos&#41;&#46; La recolecci&#243;n de muestras se dise&#241;&#243; para evitar obtener donantes que est&#233;n estrechamente relacionados&#46; Adem&#225;s&#44; se evaluaron los datos de STR autos&#243;micos en estos 12 individuos para determinar si alguno estuviera estrechamente relacionado&#46; No hubo una asociaci&#243;n discernible que indicara que alguno fuera pariente de primer grado &#40;datos no mostrados&#41;&#46; Estos 12 individuos pueden estar relacionados por l&#237;nea paterna y la tipificaci&#243;n STR autos&#243;mica carece del poder para discriminar relaciones de padre-hijo o hermanos&#46; Alternativamente&#44; estos individuos pueden indicar un efecto fundador y una subestructura de poblaci&#243;n a considerar&#46;</p><elsevierMultimedia ident="t0015"></elsevierMultimedia></span><span id="s0050" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="st0070">Estructura poblacional para an&#225;lisis forenses</span><p id="p0060" class="elsevierStylePara elsevierViewall">Usando una herramienta en l&#237;nea &#40;<a href="https://site.nevgen.org/nevgen-genealogy-tools-v1-1/">https&#58;&#47;&#47;site&#46;nevgen&#46;org&#47;nevgen-genealogy-tools-v1-1&#47;</a>&#41; se determinaron los haplogrupos provisionales &#40;clado principal y m&#225;s probable&#41; para los distintos haplotipos de la selva&#46; En la poblaci&#243;n de la selva peruana&#44; la mayor&#237;a &#40;91&#44;56&#37;&#41; pertenec&#237;a al haplogrupo Q&#44; y el resto se distribu&#237;a entre otros haplogrupos &#40;0&#44;94&#37; -E&#44; G&#44; J y C&#41; y &#40;3&#44;55&#37; R&#41; &#40;<a class="elsevierStyleCrossRef" href="#t0015">tabla 3</a>&#41;&#46; En la poblaci&#243;n de Iquitos el 90&#44;8&#37; de los haplotipos se asignaron al haplogrupo Q&#44; el 5&#44;8&#37; al haplogrupo R y el 1&#44;2&#37; se distribuyeron entre otros haplogrupos &#40;E&#44; G&#44; J y C&#41;&#46; En la poblaci&#243;n de Awajun&#44; el 94&#44;4&#37; y el 5&#44;6&#37; se asignaron al haplogrupo Q y E&#44; respectivamente&#46; En la muestra de la poblaci&#243;n de Tambopata&#44; el 100&#37; de los haplotipos se asignaron al haplogrupo Q &#40;<a class="elsevierStyleCrossRef" href="#t0015">tabla 3</a>&#41;&#46; Estos datos son consistentes con haplogrupos de pueblos ind&#237;genas en Am&#233;rica Latina&#46;</p></span><span id="s0055" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="st0075">Distancias gen&#233;ticas</span><p id="p0065" class="elsevierStylePara elsevierViewall">Los valores Rst para las distancias gen&#233;ticas y el gr&#225;fico MDS para la poblaci&#243;n de la selva peruana o para sus muestreos separados &#40;Iquitos&#44; Awajun y Tambopata&#41; y los conjuntos de datos de &#193;frica &#40;Sud&#225;frica&#41;<a class="elsevierStyleCrossRef" href="#bb0080"><span class="elsevierStyleSup">16</span></a>&#44; Ashaninca &#40;Oxapamapa&#44; Per&#250;&#41;<a class="elsevierStyleCrossRef" href="#bb0055"><span class="elsevierStyleSup">11</span></a>&#44; Aymara &#40;Puno&#44; Per&#250;&#41;<a class="elsevierStyleCrossRefs" href="#bb0060"><span class="elsevierStyleSup">12&#44;17</span></a>&#44; Chachapoya &#40;Amazonas&#44; Per&#250;&#41;<a class="elsevierStyleCrossRef" href="#bb0065"><span class="elsevierStyleSup">13</span></a>&#44; Chumbivilca &#40;Cuzco&#44; Per&#250;&#41;<a class="elsevierStyleCrossRef" href="#bb0085"><span class="elsevierStyleSup">17</span></a>&#44; Huancas &#40;Jun&#237;n&#44; Per&#250;&#41;<a class="elsevierStyleCrossRef" href="#bb0065"><span class="elsevierStyleSup">13</span></a>&#44; Jivaro &#40;Amazonas&#44; Per&#250;&#41;<a class="elsevierStyleCrossRef" href="#bb0065"><span class="elsevierStyleSup">13</span></a>&#44; Mestizo &#40;Per&#250;&#41;<a class="elsevierStyleCrossRefs" href="#bb0090"><span class="elsevierStyleSup">18&#44;19</span></a>&#44; Shipibo-Conibo &#40;Ucayali&#44; Per&#250;&#41;<a class="elsevierStyleCrossRef" href="#bb0085"><span class="elsevierStyleSup">17</span></a> fueron obtenidos del YHRD a partir de 17 marcadores Y-STR comunes &#40;DYSDYS456&#44; DYS389I&#44; DYS390&#44; DYS389II&#44; DYS458&#44; DYS19&#44; DYS385&#44; DYS393&#44; DYS391&#44; DYS439&#44; DYS635&#44; DYS392&#44; YGATAH4&#44; DYS437&#44; DYS438&#44; DYS448&#41; &#40;<a class="elsevierStyleCrossRef" href="#t0015">tabla 3</a> y <a class="elsevierStyleCrossRef" href="#f0010">fig&#46; 2</a>&#41;&#46; Se utiliz&#243; la poblaci&#243;n de &#193;frica &#40;Sud&#225;frica&#41;&#91;<a class="elsevierStyleCrossRef" href="#bb0080">16</a>&#93; como grupo externo&#46;</p><elsevierMultimedia ident="f0010"></elsevierMultimedia><p id="p0070" class="elsevierStylePara elsevierViewall">Los valores Rst se emplearon para generar un &#225;rbol UPGMA usando el programa MEGA 6&#46;06&#91;<a class="elsevierStyleCrossRef" href="#bb0100">20</a>&#93; y as&#237; mostrar las diferenciaciones de las poblaciones basadas en estos haplogrupos Y-STR&#46; La poblaci&#243;n de la selva estuvo m&#225;s cerca a la poblaci&#243;n de Awajun y Jivaro &#40;Amazonas&#44; Per&#250;&#41; &#40;<a class="elsevierStyleCrossRef" href="#f0015">fig&#46; 3</a>&#41;&#46; Se us&#243; un valor de Rst &#8804; 0&#44;01 para identificar que poblaciones se agrupan estrechamente pero no se observ&#243; ninguna&#46; Centr&#225;ndonos en las poblaciones de la selva&#44; la poblaci&#243;n Awajun estuvo m&#225;s cerca a la poblaci&#243;n J&#237;baro &#40;Amazonas&#44; Per&#250;&#41; mientras que la poblaci&#243;n Iquitos estuvo m&#225;s cerca a la poblaci&#243;n Shipibo-Conibo &#40;Ucayali&#44; Per&#250;&#41;&#44; a la poblaci&#243;n Chachapoya &#40;Amazonas&#44; Per&#250;&#41; y a la poblaci&#243;n Mestizo &#40;Per&#250;&#41;&#46; Estos resultados sugieren que existe una alta afinidad gen&#233;tica entre estas poblaciones&#46; Adicionalmente&#44; la poblaci&#243;n de Tambopata se distanci&#243; de todos los grupos analizados &#40;<a class="elsevierStyleCrossRef" href="#f0015">fig&#46; 3</a>&#41;&#46; La distancia de la poblaci&#243;n de Tambopata con respecto a otras poblaciones analizadas &#40;Awajun e Iquitos&#41; puede deberse en parte a la distancia geogr&#225;fica de aproximadamente 1&#46;000 km entre las poblaciones de Iquitos y Tambopata y los aproximadamente 1&#46;200 km entre las poblaciones de Awajun y Tambopata&#46; Sin embargo&#44; con un Rst de &#8804; 0&#44;05 se observ&#243; un cluster &#40;cluster 1&#41; que no inclu&#237;a a las poblaciones de la selva&#46;</p><elsevierMultimedia ident="f0015"></elsevierMultimedia></span></span><span id="s0060" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="st0080">Conclusiones</span><p id="p0075" class="elsevierStylePara elsevierViewall">Hay escasos datos gen&#233;ticos de las poblaciones analizadas&#46; Guevara et al&#46;<a class="elsevierStyleCrossRef" href="#bb0065"><span class="elsevierStyleSup">13</span></a> estudiaron poblaciones de la selva del Per&#250; y detectaron el haplogrupo Q en solo el 60&#37; de la poblaci&#243;n Chachapoyas &#40;n &#61; 68&#41;&#44; mientras que en las poblaciones J&#237;baro &#40;n &#61; 23&#41; y Huancas &#40;n &#61; 10&#41; estuvo presente en el 96 y 92&#37;&#44; respectivamente<a class="elsevierStyleCrossRef" href="#bb0070"><span class="elsevierStyleSup">14</span></a>&#44; y en los Ashanincas &#40;Oxapampa&#44; n &#61; 58&#41; el haplogrupo Q se present&#243; en m&#225;s del 99&#37;<a class="elsevierStyleCrossRef" href="#bb0075"><span class="elsevierStyleSup">15</span></a>&#46; En el presente estudio se observ&#243; el haplogrupo Q en el 91&#44;56&#37; de la poblaci&#243;n&#44; similar al de las poblaciones J&#237;varo&#44; Huancas y Ash&#225;nincas&#46; Esto puede deberse a un ancestro en com&#250;n o la estrategia de muestreo empleada&#44; as&#237; como a los criterios de inclusi&#243;n&#46;</p><p id="p0080" class="elsevierStylePara elsevierViewall">Se tipificaron los 27 loci Y-STR en 141 individuos de sexo masculino de la selva del Per&#250; no emparentados&#44; lo que proporcion&#243; un conjunto de datos m&#225;s consistente para este grupo de poblaci&#243;n&#46; Los datos obtenidos han sido depositados en la base de datos YHRD &#40;n&#250;mero de acceso de la poblaci&#243;n de Awajun&#58; YA005891 y n&#250;mero de acceso de la poblaci&#243;n de Iquitos&#58; YA004763&#41; a excepci&#243;n de la muestra de poblaci&#243;n de Tambopata por el n&#250;mero de muestras recolectadas &#40;n &#61; 8&#41;&#46; Estos datos son m&#225;s amplios que otros datos disponibles para la poblaci&#243;n de la selva del Per&#250;&#46; Por ejemplo&#44; YRHD &#40;<a href="http://Yhrd.org">Yhrd&#46;org</a>&#41; contiene solo 5 haplotipos &#40;con el kit AmpFlSTR Yfiler&#8482; PCR Amplification&#44; Applied Biosystems&#8482;&#41; para Iquitos &#40;Loreto&#44; Per&#250;&#41; &#40;archivado con el n&#250;mero de acceso YA003823&#41; y ning&#250;n haplotipo de las poblaciones de Awajun y Tambopata&#46; Otros estudios publicados sobre datos del cromosoma Y de Per&#250; tienen una muestra m&#225;s peque&#241;a&#44; como los Aymara &#40;n &#61; 90&#41;<a class="elsevierStyleCrossRef" href="#bb0060"><span class="elsevierStyleSup">12</span></a>&#44; Aguaruna &#40;n &#61; 30&#41;<a class="elsevierStyleCrossRef" href="#bb0105"><span class="elsevierStyleSup">21</span></a>&#44; as&#237; como otras poblaciones de Am&#233;rica del Sur&#44; incluida la Ticuna de Per&#250;&#44; Brasil &#40;n &#61; 23&#41; y Surui de Brasil &#40;n &#61; 24&#41;<a class="elsevierStyleCrossRef" href="#bb0110"><span class="elsevierStyleSup">22</span></a>&#46; Los an&#225;lisis realizados en esta investigaci&#243;n muestran que los haplotipos Y-STR estudiados presentaron un elevado polimorfismo en la poblaci&#243;n analizada y&#44; por lo tanto&#44; es de utilidad en estudios forenses para identificaci&#243;n de grupos poblacionales por l&#237;nea paterna&#44; as&#237; como en gen&#233;tica de poblaciones cuando se investigan grupos o individuos de Am&#233;rica Latina&#46;</p></span><span id="s0065" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="st0085">Responsabilidades &#233;ticas</span><p id="p0085" class="elsevierStylePara elsevierViewall">El estudio fue aprobado por el Comit&#233; de &#201;tica del Instituto de Medicina Tropical &#171;Daniel Alcides Carri&#243;n&#187; de la Universidad Nacional de San Marcos &#40;Certificado de Aprobaci&#243;n CIEI-2018-015&#41;&#46;</p></span><span id="s0070" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="st0090">Conflicto de intereses</span><p id="p0090" class="elsevierStylePara elsevierViewall">Ninguno&#46;</p></span><span id="s0075" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="st0095">Financiaci&#243;n</span><p id="p0095" class="elsevierStylePara elsevierViewall">Proyecto financiado con recursos transferidos por el Ministerio de Educaci&#243;n &#40;MINEDU&#41;&#44; a&#241;o 2021 a trav&#233;s del programa Proyectos de Investigaci&#243;n e Innovaci&#243;n para el Fortalecimiento de las L&#237;neas de Investigaci&#243;n de los Grupos de Investigaci&#243;n de la UNMSM - Pol&#237;tica Nacional de Educaci&#243;n T&#233;cnica Superior Productiva &#40;PNESTP-MINEDU&#41;&#46;</p></span></span>"
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        "resumen" => "<span id="as0005" class="elsevierStyleSection elsevierViewall"><p id="sp0110" class="elsevierStyleSimplePara elsevierViewall"><span class="elsevierStyleItalic">Introducci&#243;n&#58;</span> los marcadores de repeticiones cortas en t&#225;ndem del cromosoma Y &#40;Y-STR&#41; se ubican en la regi&#243;n no recombinante del cromosoma Y&#44; su herencia es por v&#237;a paterna&#44; no son detectables en el ADN femenino&#46; Estas propiedades hacen de los Y-STR una herramienta &#250;til en las investigaciones forenses&#44; como las agresiones sexuales&#44; paternidades y otros delitos violentos&#59; asimismo son &#250;tiles en estudios geneal&#243;gicos y evolutivos&#46; El objetivo de la investigaci&#243;n es ampliar la evidencia cient&#237;fica de la distribuci&#243;n por regiones o pa&#237;s de los haplotipos del cromosoma sexual Y&#44; estudios similares en poblaciones peruanas son escasas debido al n&#250;mero menor de polimorfismos Y-STR de uso frecuente en gen&#233;tica forense y de poblaciones&#46;</p><p id="sp0115" class="elsevierStyleSimplePara elsevierViewall"><span class="elsevierStyleItalic">Material y m&#233;todos&#58;</span> en la investigaci&#243;n se analizaron 141 muestras de ADN de la selva del Per&#250;&#44; de las que 104 muestras corresponden a la regi&#243;n de Iquitos &#40;Loreto&#41;&#44; 29 muestras son Awajun &#40;Amazonas&#41; y 8 muestras de Tambopata &#40;Madre de Dios&#41;&#46; Las muestras fueron procesadas empleando PCR directa con el kit Yfiler&#8482; Plus PCR Amplification para 27 STR&#44; los productos amplificados fueron analizados por electroforesis capilar en el Applied Biosystem&#8482; 3500XL Genetic Analyzer y los datos obtenidos se importaron al software GeneMapper&#174; ID-X v1&#46;5 para generar los perfiles gen&#233;ticos&#46; Con los resultados obtenidos se realiz&#243; el an&#225;lisis estad&#237;stico y la estructura poblacional&#46;</p><p id="sp0120" class="elsevierStyleSimplePara elsevierViewall"><span class="elsevierStyleItalic">Resultados&#58;</span> de las 141 muestras se obtuvieron 106 haplotipos &#250;nicos&#46; La diversidad gen&#233;tica para cada marcador Y-STR estuvo entre 0&#44;317 y 0&#44;919&#46; La diversidad haplot&#237;pica para la muestra total fue de 0&#44;9906&#46; El estudio registra que los haplotipos Y-STR estudiados presentaron elevado polimorfismo en la poblaci&#243;n analizada y&#44; por lo tanto&#44; son de gran utilidad en estudios forenses de identificaci&#243;n humana&#44; as&#237; como en gen&#233;tica de poblaciones cuando se investigan grupos o individuos de Am&#233;rica Latina&#46;</p></span>"
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        "resumen" => "<span id="as0010" class="elsevierStyleSection elsevierViewall"><p id="sp0125" class="elsevierStyleSimplePara elsevierViewall">Y-chromosome-specific short tandem repeat &#40;Y-STR&#41; markers reside on the non-recombinant portion of the Y chromosome&#44; their inheritance is paternal&#44; they are not detectable in female DNA&#46; These properties make Y-STRs a useful tool in forensic investigations such as sexual assault&#44; parenting&#44; and other violent crimes&#59; likewise they are also useful in genealogical and evolutionary studies&#46; The objective of the research is to expand the scientific evidence of the distribution by region or country of the Y sex chromosome haplotypes&#46; Similar studies in Peruvian populations are scarce due to the smaller number of Y-STR polymorphisms frequently used in Forensic and Population Genetics&#46;</p><p id="sp0130" class="elsevierStyleSimplePara elsevierViewall">Material and method&#58; In the investigation&#44; 141 DNA samples from the jungle of Peru were analyzed&#44; of which comprised of 104 samples from Iquitos region &#40;Loreto&#41;&#44; 29 samples from Awajun &#40;Amazonas&#41; and 8 samples from Tambopata &#40;Madre de Dios&#41;&#46; The samples were processed using direct PCR with the Yfiler&#8482; Plus PCR Amplification kit for 27 STRs&#44; the amplified products were analyzed by capillary electrophoresis on the Applied Biosystem&#8482; 3500XL Genetic Analyzer&#44; and the data obtained was imported into the GeneMapper&#174; ID-X v1&#46;5 software to generate the genetic profiles&#46; With the results obtained&#44; the statistical analysis and the population structure were carried out&#46;</p><p id="sp0135" class="elsevierStyleSimplePara elsevierViewall">Results&#58; Of the 141 samples&#44; 106 unique haplotypes were observed&#46; Gene diversities for each Y-STR marker ranged from 0&#46;317 to 0&#46;919&#46; The haplotype diversity for the total sample was 0&#46;9906&#46; This study supports that the Y-STR haplotypes in this population are highly polymorphic in the analyzed population and&#44; therefore&#44; are very useful in forensic studies of human identification&#44; as well as in population genetics when investigating groups or individuals from Latin America&#46;</p></span>"
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          "es" => "<p id="sp0005" class="elsevierStyleSimplePara elsevierViewall">Poblaciones y coordenadas de las 141 muestras colectadas&#46; Iquitos &#40;n &#61; 104&#59; Loreto&#44; 3&#176;45&#8242;19&#8243;S&#44; 73&#176;14&#8242;57&#8243;O&#41;&#44; Awajun&#44; &#40;n &#61; 29&#59; Amazonas&#44; 4&#176;34&#8242;59&#8243;S&#44; 77&#176;54&#8242;0&#8243; W&#41; y Tambopata &#40;n &#61; 8&#59; Madre de Dios&#44; 12&#176;40&#8242;18&#46;9&#8243; S 69&#176;21&#46;328&#8242; O&#41;&#46;</p>"
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                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">DYS460&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="" valign="\n
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                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">DYS458&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="" valign="\n
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                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">DYS19&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="" valign="\n
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                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">YGATAH4&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="" valign="\n
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                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">DYS448&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="" valign="\n
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                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">DYS391&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="" valign="\n
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                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">DYS456&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">DYS390&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">DYS438&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">DYS392&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">DYS518&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="" valign="\n
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                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">DYS570&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="" valign="\n
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                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">DYS437&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="" valign="\n
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                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">DYS449&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="" valign="\n
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                  \t\t\t\t\t\t</th><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="" valign="\n
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                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="" valign="\n
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                  \t\t\t\t\t\t</th><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="" valign="\n
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                  """
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        "descripcion" => array:1 [
          "es" => "<p id="sp0075" class="elsevierStyleSimplePara elsevierViewall">Frecuencias al&#233;licas y diversidad gen&#233;tica de 23 loci Y-STR de la poblaci&#243;n de la selva del Per&#250; &#40;n<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>141&#41;</p>"
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      4 => array:8 [
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            "detalle" => "Tabla "
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        "tabla" => array:2 [
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          "es" => "<p id="sp0085" class="elsevierStyleSimplePara elsevierViewall">Frecuencias al&#233;licas y diversidad gen&#233;tica de 4 loci Y-STR de la poblaci&#243;n de la selva del Per&#250; &#40;n &#61;<span class="elsevierStyleHsp" style=""></span>141&#41;</p>"
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        "identificador" => "t0015"
        "etiqueta" => "Tabla 3"
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          "leyenda" => "<p id="sp0100" class="elsevierStyleSimplePara elsevierViewall"><span class="elsevierStyleItalic">Con Rst 0&#44;01 no se obtuvieron Clusters&#46;</span></p><p id="sp0105" class="elsevierStyleSimplePara elsevierViewall">Con Rst 0&#44;05 se obtuvo un cluster&#46; Cluster 1&#58; Cuzco&#44; Per&#250; &#40;Chumbivilca&#41;&#59; Puno&#44; Per&#250; &#40;Aymara&#41;&#59; Jun&#237;n&#44; Per&#250; &#40;Huanca&#41;&#46;</p>"
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                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Poblaci&#243;n de la Selva del Per&#250; &#40;n<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>110&#41;&nbsp;\t\t\t\t\t\t\n
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                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Poblaci&#243;n Tambopata &#40;n<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>5&#41;&nbsp;\t\t\t\t\t\t\n
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                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">South Africa &#91;African&#93; &#40;n<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>183&#41;&nbsp;\t\t\t\t\t\t\n
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                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Oxapampa&#44; Peru &#91;Ashaninka&#93;&#40;n<span class="elsevierStyleHsp" style=""></span>&#61; 57&#41;&nbsp;\t\t\t\t\t\t\n
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                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Amazonas&#44; Peru &#91;Chachapoya&#93; &#40;n<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>106&#41;&nbsp;\t\t\t\t\t\t\n
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                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Cuzco&#44; Peru &#91;Chumbivilca&#93; &#40;n<span class="elsevierStyleHsp" style=""></span>&#61; 10&#41;&nbsp;\t\t\t\t\t\t\n
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                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Jun&#237;n&#44; Peru &#91;Huanca&#93; &#40;n<span class="elsevierStyleHsp" style=""></span>&#61; 13&#41;&nbsp;\t\t\t\t\t\t\n
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                  \t\t\t\t  " align="" valign="\n
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                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Amazonas&#44; Peru &#91;Jivaro&#93; &#40;n<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>21&#41;&nbsp;\t\t\t\t\t\t\n
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                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Peru &#91;Mestizo&#93; &#40;n<span class="elsevierStyleHsp" style=""></span>&#61; 218&#41;&nbsp;\t\t\t\t\t\t\n
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                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Ucayali&#44; Peru &#91;Shipibo-Conibo&#93; &#40;n<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>21&#41;&nbsp;\t\t\t\t\t\t\n
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                  \t\t\t\t  " align="" valign="\n
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                  \t\t\t\t">0&#44;0309&nbsp;\t\t\t\t\t\t\n
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                  \t\t\t\t"><span class="elsevierStyleItalic">Poblaci&#243;n Awajun &#40;n<span class="elsevierStyleHsp" style=""></span>&#61; 18&#41;</span>&nbsp;\t\t\t\t\t\t\n
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                  \t\t\t\t"><span class="elsevierStyleItalic">South Africa &#40;&#91;African&#93; n<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>183&#41;</span>&nbsp;\t\t\t\t\t\t\n
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                  \t\t\t\t"><span class="elsevierStyleItalic">Oxapampa&#44; Per&#250; &#40;&#91;Ashaninka&#93;n<span class="elsevierStyleHsp" style=""></span>&#61; 57&#41;</span>&nbsp;\t\t\t\t\t\t\n
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                  \t\t\t\t"><span class="elsevierStyleItalic">Amazonas&#44; Per&#250; &#40;&#91;Jivaro&#93; n<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>21&#41;</span>&nbsp;\t\t\t\t\t\t\n
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Información del artículo
ISSN: 03774732
Idioma original: Español
DOI:10.1016/j.reml.2022.10.001
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