RESUMEN
[Objective]Screening mutation sites of POGZ gene in 100 intellectual disability patients to explore their pathogenesis relationship.[Method]Genomic DNA was isolated from peripheral blood. All exons,exon-intron boundaries,5'UTR and 3'UTR of POGZ were amplified by PCR and PCR products were directly sequenced.[Results]A novel mutation was identified,and the mis?sense mutation disrupted the unique zing-finger like motif of POGZ,which is a critical element for binding Hp1. The mutated POGZ failed to bind with HP1 thus might lose its cell cycle regulation function.[Conclusion]Mutations of POGZ gene weighs more in intel?lectual disability etiology. Screening of POGZ in unexplained intellectual disability patients contributes to their pathogenesis analyze , screening of POGZ in pregnants with family history of intellectual disability can prevent intellectual disability from birthing.
