Deletion mapping based on STS-PCR of Y-STR negative Chinese males

Mapa de ausencia de Y-STR negativo en hombres chinos basado en STS-PCR

Background: In forensic genetic identification, male samples that lack the amelogenin Y-linked gene may be mistakenly genotyped as females. Therefore, in recent years, the Yindel has been integrated into multiplex polymerase chain reaction (PCR) kits designed for sex determination. Nevertheless, it has been observed that certain male individuals still exhibit negative results for these two loci or other short tandem repeat in Y chromosome (Y-STR). Methods: Y chromosome short tandem repeat (Y-STR) genotyping was performed to identify the deletion of STRs on the Y chromosome in two Chinese males. This provided a comprehensive assessment of the extent of Y chromosome deletion. The Yp11.2 deletion map was developed using Y-specific sequence-tagged sites (STSs) to verify the extent of the Yp11.2 region deletion and identify the unique deletion type in individuals at a more detailed level. Results: Y-STR genotyping revealed the presence of deletions in the DYS570 and DYS576 loci in the two Chinese males. Conclusions: We report a novel approach for detecting sites of Y chromosome deletion in Chinese males with AMELY drop-out or negative Y-STR loci. Identifying a significant number of sequence-tagged site (STS) loci enables a more systematic determination of the correlation between the deletion of different regions of the Y chromosome and the physiological and pathological characteristics. This allows for the identification of the specific role that each region of the Y chromosome plays in male ontogeny and fertility maintenance. Furthermore, this study’s deletion pattern of Y-STRs differed from other previously reported cases. Seventeen selected Y-STSs exhibited a new class of deletion patterns.This study presents a simple and efficient approach using STS loci to investigate the classification of Y chromosome short tandem repeat (Y-STR) deletions and Yp11.2 deletion patterns in Chinese males and their correlation with male fertility.

Resumen

Antecedentes: En la identificación genética forense, las muestras masculinas que carecen del gen de la cadena Y de la amelogenina pueden dividirse erróneamente en mujeres. Así, en los últimos años, Y-indel se ha integrado en kits de reacción en cadena de polimerasa múltiple (PCR) para la identificación de género. Sin embargo, se ha observado que algunos individuos masculinos siguen mostrando resultados negativos para estos dos sitios u otros secuencia repetida de tándem corto del cromosoma Y (Y-STR). Métodos: Se realizó la genotipado de la secuencia repetida de tándem corto (Y-STR) del cromosoma Y para identificar la ausencia de STR en el cromosoma y en dos hombres chinos. Esto proporciona una evaluación completa del grado de ausencia del cromosoma Y. El mapa de deleciones Yp11.2 fue desarrollado utilizando sitios de marcadores de secuencia Y específicos (STSs) para verificar el grado de deleción en la región Yp11.2 e identificar tipos únicos de deleciones en individuos a un nivel más detallado. Resultados: El genotipado Y-STR mostró deleciones en los genes DYS570 y DYS576 en dos hombres chinos. Conclusiones: Informamos un enfoque novedoso para detectar sitios de deleción del cromosoma Y en varones chinos con pérdida de AMELY o loci negativos de Y-STR. Identificar un gran número de sitios marcado por secuencia (STS) puede determinar de manera más sistemática la correlación entre la ausencia de diferentes regiones del cromosoma Y las características fisiológicas y patológicas. Esto permite identificar el papel específico de cada región del cromosoma Y en el desarrollo individual masculino y el mantenimiento de la fertilidad. Además, el patrón de ausencia de Y-STR en este estudio es diferente al de otros casos reportados anteriormente. Diecisiete y-STSs seleccionados mostraron una nueva categoría de patrones ausentes. Este estudio propone un método simple Y eficaz para estudiar la clasificación de los patrones de Deleción de secuencias repetidas de tándem corto (Y-STR) Y Deleción Yp11.2 en los cromosomas Y masculinos chinos y su correlación con la fertilidad masculina utilizando sitios STS.

AMELY dropout; Y-STR; STS; Yp11.2 region; Deletion mapping

Palabras Clave

Pérdida de AMELY; Y-STR; STS; Área Yp11.2; Mapeo de deleciones

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