Zhao Shu-Min, Li Cheng-Tao
Shanghai Key Laboratory of Forensic Medicine, Institute of Forensic Science, Ministry of Justice, Shanghai 200063, China.
Fa Yi Xue Za Zhi. 2009 Aug;25(4):290-5.
As an important epigenetic marker, DNA methylation has exhibited a valuable perspective in the fields of forensic genetics, especially in cases of paternity identification in duos and discrimination of monozygotic twins, which may be a useful complement to the classic genetics markers, such as short tandem repeats, single nucleotide polymorphism. Various methods for DNA methylation detection have been developed and validated based on methylation sensitive restriction endonuclease, bisulfite modification or methylation-CpG binding domain protein. Methylation-sensitive single nucleotide primer extension, real-time PCR, methylation-specific PCR, methylation-specific multiplex ligation-dependent probe amplification and the Illumina's Human Methylation 27 have been all applicable for analyzing identified CpG loci or short sequences, and can be effectively used in forensic laboratory. However, Amplification of Inter-Methylated Sites (AIMS), Hpa II tiny fragment Enrichment by Ligation-mediated PCR (HELP) or Combination of Methylated-DNA Precipitation and Methylation-Sensitive Restriction Enzymes (COMPARE-MS) are useful in genome wide methylation scanning to find new CpG loci which may be valuable in forensic fields.
作为一种重要的表观遗传标记,DNA甲基化在法医遗传学领域展现出了重要价值,尤其是在单亲亲子鉴定和同卵双胞胎鉴别方面,它可能是对短串联重复序列、单核苷酸多态性等经典遗传标记的有益补充。基于甲基化敏感限制性内切酶、亚硫酸氢盐修饰或甲基化CpG结合域蛋白,人们开发并验证了多种DNA甲基化检测方法。甲基化敏感单核苷酸引物延伸、实时PCR、甲基化特异性PCR、甲基化特异性多重连接依赖探针扩增以及Illumina公司的Human Methylation 27均适用于分析已鉴定的CpG位点或短序列,并且能在法医实验室中有效应用。然而,甲基化位点间扩增技术(AIMS)、连接介导PCR富集Hpa II微小片段技术(HELP)或甲基化DNA沉淀与甲基化敏感限制性酶联合技术(COMPARE-MS)在全基因组甲基化扫描中很有用,可用于寻找在法医领域可能有价值的新CpG位点。