Shanghai Key Laboratory of Forensic Medicine, Shanghai Forensic Service Platform, Academy of Forensic Sciences, Ministry of Justice, Shanghai 200063, PR China.
Shanghai Key Laboratory of Forensic Medicine, Shanghai Forensic Service Platform, Academy of Forensic Sciences, Ministry of Justice, Shanghai 200063, PR China; Institute of Forensic Medicine, West China School of Basic Medical Sciences & Forensic Medicine, Sichuan University, Chengdu 610041, PR China.
Forensic Sci Int Genet. 2022 Mar;57:102647. doi: 10.1016/j.fsigen.2021.102647. Epub 2021 Dec 1.
With the tremendous development of massively parallel sequencing (MPS) in the last decade, it has been widely applied in basic science, clinical diagnostics, microbial genomics, as well as forensic genetics. MPS has lots of advantages that may facilitate the kinship analysis. In this study, 243 Chinese Han individuals from 17 families were involved and sequenced using the ForenSeq™ DNA Signature Prep Kit (Verogen, Inc., San Diego, USA), which provided the sequence information of 27 autosomal STRs (A-STRs), 7 X chromosomal STRs (X-STRs), 24 Y chromosomal STRs (Y-STRs) and 94 identity-informative SNPs (iSNPs). A total of 275 pairs of parent-child, 123 pairs of full siblings, 1 pair of twins, 1 pair of half siblings, 158 pairs of grandparent-grandchild, 222 pairs of uncle/aunt-nephew/niece and 121 pairs of first cousins, as well as 701 pairs of unrelated individuals were identified. Using both likelihood ratio (LR) and identical by state (IBS) methods, the kinship analysis was conducted among these relative and non-relative pairs based on the A-STRs and SNPs. As a result, the ForenSeq Signature Kit could solve the analysis of parent-child (t1 = -4, t2 = 4), full siblings (t1 = -2, t2 = 2) and most second-degree kinships (t1 = -1, t2 = 1) using the LR method. When the IBS method was applied, 123 full sibling pairs had a higher average IBS value than other kinship groups in this study. And the IBS method could play a role in the testing of parent-child and full siblings.
在过去十年中，随着大规模平行测序（MPS）的巨大发展，它已广泛应用于基础科学、临床诊断、微生物基因组学以及法医遗传学。MPS 具有许多优势，可能有助于亲缘关系分析。在这项研究中，我们使用 ForenSeq™ DNA Signature Prep Kit（Verogen，Inc.，圣地亚哥，美国）对来自 17 个家庭的 243 名中国汉族个体进行了测序，该试剂盒提供了 27 个常染色体短串联重复序列（A-STRs）、7 个 X 染色体短串联重复序列（X-STRs）、24 个 Y 染色体短串联重复序列（Y-STRs）和 94 个身份信息 SNP（iSNPs）的序列信息。总共鉴定了 275 对父母-子女、123 对全同胞、1 对双胞胎、1 对半同胞、158 对祖孙、222 对叔侄-侄子/侄女、121 对表亲，以及 701 对无关个体。我们使用似然比（LR）和相同状态（IBS）方法，基于 A-STRs 和 SNPs，对这些相对和非亲属对进行了亲缘关系分析。结果表明，ForenSeq Signature Kit 可以使用 LR 方法解决亲子关系（t1=-4，t2=4）、全同胞关系（t1=-2，t2=2）和大多数二级亲属关系（t1=-1，t2=1）的分析。当应用 IBS 方法时，在本研究中，123 对全同胞对具有比其他亲属群体更高的平均 IBS 值。并且 IBS 方法可以在亲子关系和全同胞关系的检测中发挥作用。
