智力障碍患者POGZ基因突变分析

发布时间：2018-02-01 18:54

本文关键词： POGZ 智力障碍新突变　出处：《中山大学学报(医学科学版)》2017年06期 　论文类型：期刊论文

【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 GA,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。
[Abstract]:[objective] to screen the mutation of POGZ gene in 100 patients with mental retardation and to explore the relationship between the mutation of POGZ and mental retardation. [methods] DNA was extracted from peripheral blood of the patients. The exon, exon-intron junction region and 5UR region of POGZ were analyzed by PCR-sequencing. The data were compared with the data in the database. [results] one unreported new missense mutation c.2498 GA was detected in 100 patients with mental retardation. P. H833R. this mutation destroyed the finger structure of C _ 2H _ 2 zinc finger which plays a key role in the binding of POGZ protein to HP1. It may be that POGZ can't bind to HP1 protein and affect its function of regulating cell cycle. [conclusion] the mutation of POGZ gene is one of the causes of congenital mental retardation. Screening for POGZ in 10% of patients is helpful in further understanding the etiology. Prenatal examination of pregnant women with a family history of mental retardation can prevent the birth of their children.
【作者单位】：中山大学中山医学院医学遗传教研室;茂名市人民医院;中山大学生命科学院;
【基金】：国家自然科学基金(30971601)
【分类号】：R440;R749.94
【正文快照】： 智力障碍(intellectual disability,ID),又称智力低下或精神发育迟滞,在新生儿中的发病率约为1%~3%,男性患者多于女性。智力障碍病因复杂,除由围产期异常、染色体异常、先天性代谢缺陷等已知病因外,仍有约55%~60%的智力低下病因不明[1]。遗传因素是研究不明原因的智力低下的关

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