Institute of Molecular Pathology and Immunology, University of Porto, 4200-465, Porto, Portugal.
Int J Legal Med. 2012 Nov;126(6):917-21. doi: 10.1007/s00414-012-0768-5. Epub 2012 Sep 1.
Kinship investigations such as paternity are currently solved using sets of (commercially available) highly polymorphic autosomal short tandem repeats (STRs), which lead to powerful likelihood ratios (LR). Still, some difficult cases arise whenever the kinship is much more remote or if the alternative hypotheses are not correctly formulated due to the lack of information (for e.g. there is an unknown relationship between the alleged and the true fathers). In these situations, beyond the routinely used marker set, laboratories usually enlarge the number and/or the type of markers analysed. Among these, autosomal indels and X-chromosome STRs have gained popularity. The aim of this study was to compare the results obtained after complementing an initial set of autosomal STRs with indels or with X-chromosome-specific STRs in simulated paternity cases where the alleged father is a close relative of the real one. Results show that in paternity cases where a low number of incompatibilities are observed, the best strategy is to increase the number of autosomal STRs under analysis. Nevertheless, if these are not available, our study globally shows that in father-daughter duos, a set of 12 X-STRs is more advantageous than 38 highly diverse autosomal biallelic markers. Additionally, the usefulness of X-STRs was also evaluated in cases where only a close relative of the alleged parent (father or mother) is available for testing. For those situations where these markers have the power to exclude, strong LR values are obtained. In the remaining cases, LRs are usually weak and sometimes the results are more likely under the wrong kinship hypothesis.
目前,亲缘关系调查(如亲子鉴定)是通过使用(商业上可获得的)多态性高的常染色体短串联重复序列(STRs)集来解决的,这会导致强大的似然比(LR)。然而,当亲缘关系非常遥远,或者由于缺乏信息(例如,在被指控的父亲和真正的父亲之间存在未知的关系)而无法正确制定替代假设时,就会出现一些困难的情况。在这些情况下,除了常规使用的标记集之外,实验室通常会增加分析的标记数量和/或类型。其中,常染色体插入缺失和 X 染色体 STRs 已经变得很流行。本研究的目的是比较在模拟亲子鉴定案例中,在用插入缺失或 X 染色体特异性 STRs 补充初始常染色体 STRs 集后获得的结果,其中被指控的父亲是真正父亲的近亲。结果表明,在观察到少量不兼容的亲子鉴定案例中,最好的策略是增加正在分析的常染色体 STRs 的数量。然而,如果没有这些 STRs,我们的研究总体上表明,在父女二人组中,一组 12 个 X-STRs 比 38 个高度多样化的常染色体二态性标记更有利。此外,还评估了仅在被指控的父母(父亲或母亲)的近亲可用于检测的情况下 X-STRs 的有用性。对于这些标记能够排除的情况,会得到很强的 LR 值。在其余情况下,LR 值通常较弱,有时根据错误的亲缘关系假设,结果更有可能成立。