【摘要】：目的繪制并分析遺傳性牙齦纖維瘤(HGF)突變遺傳圖譜,預(yù)測與其發(fā)病有關(guān)的特異性突變和基因。方法利用第二代Sloxa測序技術(shù)對所收集到的一個(gè)具有明顯母系遺傳特征的家系樣本進(jìn)行全外顯子組測序,結(jié)合生物信息學(xué)手段和實(shí)驗(yàn)驗(yàn)證,篩選可能與HGF發(fā)病有關(guān)的單核苷酸多態(tài)性(SNP)和基因,并在正常人群中進(jìn)行驗(yàn)證。結(jié)果篩選到17個(gè)可能與該病發(fā)生相關(guān)的SNP,在約200個(gè)正常人驗(yàn)證中出現(xiàn)了少量相同變異;在與表達(dá)譜芯片結(jié)果聯(lián)合分析中,在5個(gè)母系印記基因中篩選出5個(gè)新的變異并加以驗(yàn)證。結(jié)論成功繪制出HGF外顯子組突變圖譜,部分SNP在正常人群中有低頻發(fā)生,并在5個(gè)母系印記基因中發(fā)現(xiàn)未報(bào)道的突變。通過引入全外顯子組測序技術(shù)對該病進(jìn)行開拓性的研究,為進(jìn)一步研究該病有著借鑒意義。
[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.
【作者單位】： 中科院上海生命科學(xué)研究院/上海交通大學(xué)醫(yī)學(xué)院健康科學(xué)研究所;
【基金】：國家自然科學(xué)基金青年科學(xué)基金面上項(xiàng)目(30700463)~~
【分類號(hào)】：R739.8

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