Zhou Shiyuan, Wang Haili, Wang Qing K, Wang Pengyun, Wang Fengyu, Xu Chengqi
Henan Provincial Research Institute for Population and Family Planning, Zhengzhou 450002, PR China; Key Laboratory of Birthdefects Prevention, National Health and Family Planning Commission, Zhengzhou 450002, PR China.
College of Life Science and Technology and Center for Human Genome Research, Key Laboratory of Molecular Biophysics of the Ministry of Education, Huazhong University of Science and Technology, Wuhan 430074, PR China.
Leg Med (Tokyo). 2017 Jan;24:7-11. doi: 10.1016/j.legalmed.2016.11.001. Epub 2016 Nov 5.
Short tandem repeat (STR) is widely used for DNA profiling in forensic sciences for its stable inheritance. Genomic variations in STR loci may affect the results of the genotyping. In this study, using STR profiling and genome-wide chromosomal microarray assay, we detected the incidence of uniparental disomy or copy-neutral loss of heterozygosity (LOH) in a case of a parental testing, which altered the genotype of three commonly used STR markers including D2S1338, D2S441 and D2S1776. To the best of our knowledge, this is the first time found that LOH affect the genotyping of STR markers commonly used for paternity testing. Our findings demonstrated that the incidence of LOH in the genome may dramatically alter the results of DNA identification, and suggested that genomic structure variation need to be taking into consideration in the DNA identification using STR markers.
短串联重复序列（STR）因其稳定的遗传性而在法医学中广泛用于DNA分型。STR基因座的基因组变异可能会影响基因分型的结果。在本研究中，我们使用STR分型和全基因组染色体微阵列分析，在一例亲子鉴定案例中检测到单亲二体或杂合性拷贝中性缺失（LOH）的发生率，这改变了三个常用STR标记（包括D2S1338、D2S441和D2S1776）的基因型。据我们所知，这是首次发现LOH会影响常用于亲子鉴定的STR标记的基因分型。我们的研究结果表明，基因组中LOH的发生率可能会显著改变DNA鉴定的结果，并提示在使用STR标记进行DNA鉴定时需要考虑基因组结构变异。
