Biochemical Science Division, National Institute of Standards and Technology, 100 Bureau Drive, Gaithersburg, MD 20899-8312, USA.
Forensic Sci Int Genet. 2011 Nov;5(5):538-40. doi: 10.1016/j.fsigen.2010.09.003. Epub 2010 Nov 9.
Recently, the European Network of Forensic Science Institutes voted to adopt five additional STR loci (D12S391, D1S1656, D2S441, D10S1248, and D22S1045) to their existing European Standard Set of seven STRs (TH01, vWA, FGA, D8S1179, D18S51, D21S11, and D3S1358). The D12S391 and vWA loci are located 6.3megabases (Mb) apart on chromosome 12. Ideally for use in forensic analyses, genetic markers on the same chromosome should be more than 50Mb in physical distance in order to ensure full recombination and thus independent inheritance. The purpose of this study was to evaluate if the closely located D12S391 and vWA loci are independent and, consequently, if these loci can be included in the product rule calculation for forensic and kinship analyses. Departures from Hardy-Weinberg equilibrium and linkage disequilibrium between the D12S391 and vWA loci were tested using n=654 unrelated U.S. African American, Caucasian, and Hispanic samples, and n=764 father/son paternity samples. In the unrelated U.S. population samples, no significant departures from HWE were detected for D12S391 or vWA. No significant evidence of linkage disequilibrium was observed between the loci in the population samples. However, significant linkage disequilibrium was detected in U.S. African American, Caucasian, and Asian father/son samples with phased genotypes. No significant linkage disequilibrium was detected for U.S. Hispanic paternity samples. The use of phased father/son pairs allowed for robust detection of linkage disequilibrium between D12S391 and vWA. In unrelated population samples, linkage disequilibrium is present but more difficult to detect due to the large number of possible haplotype combinations and unknown allelic phase. For casework analyses that involve unrelated or related individuals, the single-locus genotype probabilities for D12S391 and vWA should not be multiplied to determine the match probability of an autosomal STR profile. Since the D12S391 and vWA loci are not independent, it is recommended that the observed combination of alleles at D12S391 and vWA should be treated as a non-independent diplotype for profile probability calculations. The observed haplotype frequencies for U.S. African American, Caucasian, Hispanic, and Asian populations are provided for match probability calculations.
最近，欧洲法医研究所网络投票决定在其现有的欧洲标准 7 个 STR （TH01、vWA、FGA、D8S1179、D18S51、D21S11 和 D3S1358）中增加 5 个额外的 STR 基因座（D12S391、D1S1656、D2S441、D10S1248 和 D22S1045）。D12S391 和 vWA 基因座位于染色体 12 上相隔 6.3Mb 的位置。理想情况下，用于法医分析的遗传标记应该在同一染色体上相隔 50Mb 以上，以确保完全重组，从而实现独立遗传。本研究的目的是评估紧密相连的 D12S391 和 vWA 基因座是否独立，以及这些基因座是否可以包含在法医和亲属关系分析的乘积法则计算中。使用 n=654 个无关的美国非裔美国人、白人和西班牙裔样本和 n=764 个父子亲子样本，测试了 D12S391 和 vWA 基因座之间的 Hardy-Weinberg 平衡和连锁不平衡的偏离。在无关的美国人群样本中，未检测到 D12S391 或 vWA 明显偏离 HWE。在人群样本中未观察到这些基因座之间的显著连锁不平衡。然而，在有相位基因型的美国非裔美国人、白人和亚洲父子样本中，检测到显著的连锁不平衡。未检测到美国西班牙裔亲子样本的显著连锁不平衡。使用有相位的父子对可以可靠地检测 D12S391 和 vWA 之间的连锁不平衡。在无关的人群样本中，由于可能的单倍型组合数量和未知的等位基因相位，连锁不平衡存在，但更难以检测。对于涉及无关或相关个体的案例分析，不应将 D12S391 和 vWA 的单基因座基因型概率相乘，以确定常染色体 STR 图谱的匹配概率。由于 D12S391 和 vWA 基因座不独立，因此建议将 D12S391 和 vWA 等位基因的观察组合视为非独立双态性，用于概率计算。提供了美国非裔美国人、白种人、西班牙裔和亚洲人群的观察到的单倍型频率，用于匹配概率计算。
