The Spanish and Portuguese Speaking Working Group of the International Society for Forensic Genetics (GHEP-ISFG) organized a collaborative study on mutations of Y-chromosomal short tandem repeats (Y-STRs). New data from 2225 father-son duos and data from 44 previously published reports, corresponding to 25,729 duos, were collected and analyzed. Marker-specific mutation rates were estimated for 33 Y-STRs. Although highly dependent on the analyzed marker, mutations compatible with the gain or loss of a single repeat were 23.2 times more likely than those involving a greater number of repeats. Longer alleles (relatively to the modal one) showed to be nearly twice more mutable than the shorter ones. Within the subset of longer alleles, the loss of repeats showed to be nearly twice more likely than the gain. Conversely, shorter alleles showed a symmetrical trend, with repeat gains being twofold more frequent than reductions. A positive correlation between the paternal age and the mutation rate was observed, strengthening previous findings. The results of a machine learning approach, via logistic regression analyses, allowed the establishment of algebraic formulas for estimating the probability of mutation depending on paternal age and allele length for DYS389I, DYS393 and DYS627. Algebraic formulas could also be established considering only the allele length as predictor for DYS19, DYS389I, DYS389II-I, DYS390, DYS391, DYS393, DYS437, DYS439, DYS449, DYS456, DYS458, DYS460, DYS481, DYS518, DYS533, DYS576, DYS626 and DYS627 loci. For the remaining Y-STRs, a lack of statistical significance was observed, probably as a consequence of the small effective size of the subsets available, a common difficulty in the modeling of rare events as is the case of mutations. The amount of data used in the different analyses varied widely, depending on how the data were reported in the publications analyzed. This shows a regrettable waste of produced data, due to inadequate communication of the results, supporting an urgent need of publication guidelines for mutation studies.

国际法医遗传学会西班牙语和葡萄牙语工作组 (GHEP-ISFG) 组织了一项关于 Y 染色体短串联重复序列 (Y-STR) 突变的合作研究。收集并分析了 2225 名父子二人组的新数据以及 44 份先前发表的报告（对应 25,729 名二人组）的数据。估计了 33 个 Y-STR 的标记特异性突变率。尽管高度依赖于分析的标记，但与单个重复的获得或丢失相一致的突变的可能性比涉及更多重复次数的突变高 23.2 倍。较长的等位基因（相对​​于模态等位基因）显示出比较短等位基因的可变性近两倍。在较长等位基因的子集中，重复丢失的可能性几乎是增加的两倍。相反，较短的等位基因表现出对称趋势，重复增加的频率是减少的两倍。观察到父亲年龄与突变率之间呈正相关，这强化了之前的发现。机器学习方法的结果通过逻辑回归分析，允许建立代数公式，用于根据 DYS389I、DYS393 和 DYS627 的父亲年龄和等位基因长度来估计突变概率。还可以仅考虑等位基因长度作为 DYS19、DYS389I、DYS389II-I、DYS390、DYS391、DYS393、DYS437、DYS439、DYS449、DYS456、DYS458、DYS460、DYS481、DYS518、DYS 的预测因子来建立代数公式533、DYS576、DYS626 和DYS627 基因座。对于其余的 Y-STR，观察到缺乏统计显着性，这可能是由于可用子集的有效大小较小，这是罕见事件（如突变）建模中的常见困难。不同分析中使用的数据量差异很大，具体取决于分析的出版物中数据的报告方式。这表明由于结果沟通不充分而造成了所产生数据的令人遗憾的浪费，这支持了突变研究出版指南的迫切需要。