外显子组测序筛查遗传性牙龈纤维瘤的致病基因

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...

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Published in上海交通大学学报：医学版 Vol. 34; no. 12; pp. 1721 - 1726
Main Author 高炜炜 杨静 朱于非 伊现富 王孟 胡兰靛
Format Journal Article
LanguageChinese
Published 2014
Subjects
单核苷酸多态性
印记基因
外显子测序技术
表观遗传
遗传性牙龈纤维瘤
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Summary: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。
Bibliography:Objective To construct and analyze the mutant genetic profile of hereditary gingival fibromatosis（HGF） and to predict specific mutations and genes relevant to pathogenesis.Methods Samples from a family with obvious maternal inheritance were collected and whole exome sequencing was performed by Agilent SureSelect exome capture and Illumina Solxa sequencing platform.Single nucleotide polymorphisms（SNP） and genes relevant to the onset of HGF were screened by bioinformatic methods and experimental verification and verified against normal people.Results A total of 17 SNPs relevant to the onset of HGF were screened.Verification against about 200 normal people only found a small number of same mutations.Five novel mutations were screened from 5 maternal imprint genes by analyzing the results of expression profile chip.Conclusion The mutation profile of exome of HGF was successfully constructed.Some SNPs were found in normal people with low frequency.Novel mutations were found in 5 maternal imprint genes.Pioneering s
ISSN:1674-8115