全外显子测序对先天缺牙伴肿瘤家系致病基因初探

Whole Exome Sequencing for Pathogenic Genes in a Hypodontia and Tumor-prone Family

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。

Objective:To provide a reference for the early diagnosis of cancer disease risk indicators by studying the intrinsic relationship between the hypodontia and tumor gene.Methods:The clinical data of pedigree with hypodontia and tumor-prone was collected.The pedigree genetic map was drawn to analyze the genetic characteristics.The pedigree members of whole blood genomic DNA for whole exome sequencing was extracted.The obtained sequence was compared with the Human Genome Sequence37th Reference Gene Group(GRCh37).The sample variation information was screened,counted,and annotated to filter out the disease-associated mutations or gene.Results:There was an intrinsic link between abnormal tooth development and tumorigenesis.Hypodontia was expected to become an extremely important risk indicator in future tumor research.Conclusion:There may be an internal relationship between hypodontia and tumor-prone.Congenital absence of teeth is expected to be an important risk indicator in future cancer research.