DNA甲基化在法医学中的应用前景及其检测方法新进展

Perspective of DNA Methylation in Forensic Genetics and New Progress of Its Detection Methods

DNA甲基化是一种重要的表观遗传标记。新近的一些研究表明,DNA甲基化在二联体亲权鉴定、同卵双生子法医学个体甄别等案例中可能具有一定的应用前景,可作为STR或SNP等经典遗传标记的有益补充。目前基于甲基化敏感的限制性核酸内切酶、重亚硫酸盐转化以及甲基化CpG结合蛋白等原理已建立了一系列的DNA甲基化检测方法。甲基化敏感的单核苷酸引物延伸、实时荧光PCR、甲基化特异性PCR、甲基化特异性多重连接反应依赖性探针扩增、光纤微珠芯片等位点特异性DNA甲基化检测方法都可用于已知CpG位点甲基化状态的检测并可能在法医学实验室具有一定的应用前景;AIMS、HELP、COMPARE-MS等通过对基因组范围内的DNA甲基化扫描分析,可发现具有潜在法医学应用价值的DNA甲基化位点。

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, realtime 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）, HpaⅡ 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.