SNPscan法与Sanger测序法用于感音神经性聋患者常见聋病基因检测的对比研究

A Comparative Study of SNPscan and Sanger Sequence for Common Deafness Gene

李勇;陈兴健;边盼盼;陈迟;朱一鸣;郭玉芬;

1:兰州大学第二医院耳鼻咽喉-头颈外科

2:甘肃省卫计委

摘要
目的比较SNPscan法与Sanger测序法用于甘肃省部分感音神经性聋患者常见聋病基因检测的优缺点。方法在知情同意的前提下,抽取甘肃省东乡族(122例)、裕固族(11例)、保安族(18例)三个特有少数民族共151例中重度至极重度感音神经性聋患者静脉血,用磁珠法提取基因组DNA,应用SNPscan法对GJB2、SLC26A4和mtDNA基因常见115个突变位点进行筛查,采用Sanger测序法对GJB2基因的第二个外显子、SLC26A4基因P8和P18两个外显子、mtDNA的两个常见突变位点进行测序,比较两种方法基因筛查的结果。结果经SNPscan法检测151例患者GJB2、SLC26A4、mtDNA A1555G和mtDNA C1494T基因突变的总检出率为23.18%(35/151),其中东乡族、裕固族、保安族的检出率分别为21.31%(26/122)、54.54%(6/11)、16.67%(3/18),与Sanger测序法的筛查结果一致,差异无统计学意义(P>0.05);SNPscan法在三个基因的致病基因型检出率分别为11.26%(17/151)、1.32%(2/151)、0.66%(1/151),而Sanger测序法的检出率分别为9.93%(15/151)、1.32%(2/151)、0.66%(1/151),差异无统计学意义(P>0.05)。完成上述三种基因突变筛查SNPscan法耗时约10天,而Sanger测序法耗时约1个月,且前者费用较低,可同时对多个位点进行检测。结论与Sanger测序法相比较,SNPscan法用于聋病基因检测耗费时间短,通量较高,成本较低,得到更多的有意义的突变位点,有利于降低假阴性率,因此,在进行全部外显子测序前先进行SNPscan法筛查更有意义。
关键词
SNPscan法;Sanger测序法;基因突变;感音神经性聋
基金项目(Foundation):
甘肃省卫生行业计划项目(GSWST2010-06);; 兰州大学第二医院博士导师课题(bdkyjj-02);; 国家自然科学基金面上项目(81570926)
作者
李勇;陈兴健;边盼盼;陈迟;朱一鸣;郭玉芬;
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