外显子组测序筛查遗传性牙龈纤维瘤的致病基因

发布时间：2018-12-25 10:48

【摘要】：目的绘制并分析遗传性牙龈纤维瘤(HGF)突变遗传图谱,预测与其发病有关的特异性突变和基因。方法利用第二代Sloxa测序技术对所收集到的一个具有明显母系遗传特征的家系样本进行全外显子组测序,结合生物信息学手段和实验验证,筛选可能与HGF发病有关的单核苷酸多态性(SNP)和基因,并在正常人群中进行验证。结果筛选到17个可能与该病发生相关的SNP,在约200个正常人验证中出现了少量相同变异;在与表达谱芯片结果联合分析中,在5个母系印记基因中筛选出5个新的变异并加以验证。结论成功绘制出HGF外显子组突变图谱,部分SNP在正常人群中有低频发生,并在5个母系印记基因中发现未报道的突变。通过引入全外显子组测序技术对该病进行开拓性的研究,为进一步研究该病有着借鉴意义。
[Abstract]:Objective to draw and analyze the genetic map of (HGF) mutation in hereditary gingival fibroma and to predict the specific mutation and gene associated with the disease. Methods the second generation Sloxa sequencing technique was used to sequence the whole exon group of a family sample with obvious maternal genetic characteristics, which was verified by bioinformatics and experiments. Single nucleotide polymorphisms (SNP) and genes) that may be associated with the pathogenesis of HGF were screened and validated in normal population. Results Seventeen SNP, that may be associated with the development of the disease showed a small amount of the same variation in about 200 normal subjects. In combination with the results of expression microarray, five new mutations were screened out of 5 maternal imprinting genes and verified. Conclusion the mutation map of HGF exon has been successfully drawn. Some of SNP have low frequency occurrence in normal population, and unreported mutations have been found in 5 maternal imprinting genes. The introduction of total exon sequencing technology to the pioneering study of the disease, for further study of the disease significance.
【作者单位】：中科院上海生命科学研究院/上海交通大学医学院健康科学研究所;
【基金】：国家自然科学基金青年科学基金面上项目(30700463)~~
【分类号】：R739.8

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