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目的探索1对同卵双生新生儿之间DNA甲基化谱的差异。方法应用甲基化免疫共沉淀结合高通量测序法对1对同卵双生新生儿的DNA甲基化谱进行检测,分析基因组DNA甲基化特点及其之间的差异,筛选适用于法医学分析的甲基化位点。结果两样本各获得7 300万原始测序序列(raw reads)数据,与人类基因组参考序列比对,各得到4 800万和5 000万唯一比对reads,其中大部分分布在重复区域,且在Alu序列分布最为广泛。两样本DNA甲基化富集区域(peak)各检测到257 362条和197 272条,基因组覆盖率分别为6.53%和5.29%,分布在基因组不同区域,以中间内含子区含量最多。分析两样本甲基化差异区域得到2 205条差异的甲基化序列,其中595条位于基因区域,1 610条位于基因间区,从中筛选出113条序列,用于进一步深入研究其法医学应用价值。结论本研究初步证实了DNA甲基化用于同卵双生子鉴定的可行性,为筛选同卵双生子DNA甲基化差异位点提供了基础数据。
Objective To explore the differences of DNA methylation profiles between a pair of identical twins. Methods The DNA methylation profiles of 1 identical twins were detected by methylation-immunoprecipitation combined with high-throughput sequencing to analyze the characteristics of DNA methylation and the differences among them. The screening was suitable for forensic analysis Methylation site. Results The two samples each obtained 73 million raw reads and aligned with the human genome reference sequences, each yielding 48 million and 50 million unique alignments, most of which were located in the repeat region, The most widely distributed sequence. Two DNA methylation enrichment peaks (peaks) detected 257 362 and 197 272 genomic regions with genomic coverage of 6.53% and 5.29%, respectively, distributed in different regions of the genome with the highest concentration in the middle intron region. A total of 2 205 methylated sequences were obtained from the methylation difference regions of the two samples. Among them, 595 were located in the gene region and 1 610 were located in the intergenic region. A total of 113 sequences were screened out for further study of their forensic value . Conclusion Our study initially confirmed the feasibility of DNA methylation for the identification of identical twins and provided the basic data for screening the DNA methylation difference sites of identical twins.