智力障碍患者POGZ基因突变分析

摘要

[目的]在100名智力障碍患者中筛查基因POGZ的突变,探索POGZ的突变与智力障碍的关系.[方法]提取患者外周血DNA,对POGZ的外显子、外显子-内含子接头区以及5'UTR区、3'UTR区进行PCR-测序分析.通过与数据库中数据进行比对,查找突变位点.[结果]在100名智力障碍患者中检测出一例未报道过的新错义突变c.2498 G>A,p.H833R.该突变破坏了POGZ蛋白上与HP1结合起关键作用的C2H2锌指结构,可能使POGZ无法与HP1蛋白结合进而影响其调控细胞周期的功能.[结论]POGZ基因的突变是引起先天性智力障碍的原因之一.对不明原因智力障碍的患者做POGZ的筛查有助于进一步明确病因,对有智力障碍家族史的孕妇做产前检查能防止患儿的出生.%[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.