中山大学学报（医学科学版）2017，Vol.38Issue(6)：827-832,6.
智力障碍患者POGZ基因突变分析
A Novel POGZ Mutation in a Patient with Intellectual Disability
摘要
Abstract
[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.关键词
POGZ/智力障碍/新突变Key words
POGZ/intellectual disability/de novo mutation分类
医药卫生引用本文复制引用
李颖,林欣怡,刘传勇,蒋嵩山,宋新明,陈争..智力障碍患者POGZ基因突变分析[J].中山大学学报（医学科学版）,2017,38(6):827-832,6.基金项目
国家自然科学基金(30971601) （30971601）
