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Desarrollo y validación de un panel de secuenciación de captura que contiene 9000 SNPs para inferir parientes lejanos

Kuo Zeng¹, Wenting Zhao², Zhixiao Fang²

¹Key Laboratory of Forensic Genetics, Beijing Engineering Research Center of Crime Scene Evidence Examination, National Engineering Laboratory for Forensic Science, Institute of forensic science, Beijing, China; Key Laboratory of Evidence Science, China University of Political Science and Law, Beijing, China.

Forensic science international. Genetics

|August 22, 2025

Resumen

Un nuevo panel de 9000 polimorfismos de nucleótido único (SNP) infiere efectivamente parientes lejanos en las poblaciones de Asia Oriental. Esta herramienta forense muestra una alta precisión, incluso con muestras de ADN degradadas o mixtas, ayudando al análisis de parentesco.

Área de la Ciencia:

Genética forense
Genética de las poblaciones
Biología molecular

Sus antecedentes:

Inferir parientes lejanos es un desafío significativo en la ciencia forense.
Los polimorfismos de nucleótido único (SNP) se utilizan cada vez más para el análisis de parentesco forense.
Las poblaciones de Asia oriental presentan consideraciones genéticas únicas para las investigaciones forenses.

Objetivo del estudio:

Desarrollar y validar un panel de secuenciación de captura 9000 SNP para inferir parientes lejanos en poblaciones de Asia oriental.
Evaluar la fiabilidad y el rendimiento del panel SNP utilizando directrices de validación forense establecidas.
Proporcionar una herramienta robusta para aplicaciones forenses que requieren identificación de parientes distantes.

Principales métodos:

Cribado de 9000 SNPs de diversas bases de datos y matrices genéticas.
Desarrollo de un algoritmo basado en el coeficiente de probabilidad (LR) utilizando datos de pedigrí chino Han.
Implementación de un método de secuenciación de captura de hibridación para el genotipado de SNP.
Validación de acuerdo con las directrices del Grupo de Trabajo Científico sobre Métodos de Análisis del ADN (SWGDAM), incluidos los estudios sobre calidad y mezcla de ADN.

Principales resultados:

Los 9000 SNPs demostraron un polimorfismo genético significativo en las poblaciones de Asia oriental (frecuencia media de alelos menores: 0,4521).
El panel SNP identificó con fiabilidad a familiares hasta el quinto grado y algunos individuos del sexto grado.
Se logró una genotipización robusta con trazas de ADN, ADN degradado (50 pb) y muestras mixtas de ADN (19:1).
El panel mostró especificidad de especie y resistencia a la inhibición de la PCR.

Conclusiones:

El panel 9000 SNP desarrollado es una herramienta potente y confiable para inferir parientes lejanos en poblaciones de Asia Oriental.
Este panel ofrece un potencial significativo para el trabajo forense, particularmente con muestras de ADN difíciles.
Se recomienda una validación adicional con muestras más grandes para confirmar los hallazgos y ampliar la aplicabilidad.

Palabras clave:

El panel del SNP 9000 Inferencia relativa distante Aplicaciones forenses Secuencia de captura de hibridación

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