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- 2018
全外显子测序对先天缺牙伴肿瘤家系致病基因初探
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Abstract:
摘要 目的: 研究先天缺牙和肿瘤发生之间可能存在的内在联系,为寻找早期诊断肿瘤疾病的风险指标提供参考。方法: 采集先天缺牙伴肿瘤易感家系的临床资料,绘制遗传图谱分析家系遗传特征;提取家系成员静脉外周血的DNA进行全外显子测序,将符合标准的测序序列和人类基因组序列第37版参考基因组(GRCh37)进行比对,筛查、统计和注释样本中的变异信息,过滤出与疾病相关的突变位点或基因。结果: 家系成员的先天缺牙为典型常染色体显性遗传,伴有明显的肿瘤易感性;先证者及其母亲在基因DSPP、AXIN-2、ZNF609上有大量相同的突变位点。结论: 先天缺牙和肿瘤的发生存在内在联系;先天缺牙有望在未来肿瘤研究中成为一个极具潜力的风险指标
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