Tillmar Andreas O, Kling Daniel, Butler John M, Parson Walther, Prinz Mechthild, Schneider Peter M, Egeland Thore, Gusmão Leonor
Department of Forensic Genetics and Forensic Toxicology, National Board of Forensic Medicine, Linköping, Sweden; Department of Clinical and Experimental Medicine, Faculty of Health Sciences, Linköping University, Linköping, Sweden.
Department of Forensic Services, Oslo University Hospital, Oslo, Norway.
Forensic Sci Int Genet. 2017 Jul;29:269-275. doi: 10.1016/j.fsigen.2017.05.005. Epub 2017 May 13.
Forensic genetic laboratories perform an increasing amount of genetic analyses of the X chromosome, in particular to solve complex cases of kinship analysis. For some biological relationships X-chromosomal markers can be more informative than autosomal markers, and there are a large number of markers, methods and databases that have been described for forensic use. Due to their particular mode of inheritance, and their physical location on a single chromosome, some specific considerations are required when estimating the weight of evidence for X-chromosomal marker DNA data. The DNA Commission of the International Society for Forensic Genetics (ISFG) hereby presents guidelines and recommendations for the use of X-chromosomal markers in kinship analysis with a special focus on the biostatistical evaluation. Linkage and linkage disequilibrium (association of alleles) are of special importance for such evaluations and these concepts and the implications for likelihood calculations are described in more detail. Furthermore it is important to use appropriate computer software that accounts for linkage and linkage disequilibrium among loci, as well as for mutations. Even though some software exist, there is still a need for further improvement of dedicated software.
法医遗传学实验室对X染色体进行的基因分析越来越多，尤其是为了解决复杂的亲缘关系分析案件。对于某些生物学关系，X染色体标记可能比常染色体标记更具信息性，并且已经有大量用于法医用途的标记、方法和数据库被描述。由于其特殊的遗传方式以及在单条染色体上的物理位置，在评估X染色体标记DNA数据的证据权重时需要一些特殊考虑。国际法医遗传学协会（ISFG）DNA委员会特此提出在亲缘关系分析中使用X染色体标记的指南和建议，特别关注生物统计学评估。连锁和连锁不平衡（等位基因关联）对于此类评估尤为重要，这些概念以及对似然计算的影响将更详细地描述。此外，使用考虑基因座间连锁和连锁不平衡以及突变的适当计算机软件也很重要。尽管已有一些软件，但仍需要进一步改进专用软件。
