Short tandem repeat polymorphisms on the male‐specific part of the human Y‐chromosome (Y‐STRs) are valuable tools in many areas of human genetics. Although their paternal inheritance and moderate mutation rate (~10⁻³ mutations per marker per meiosis) allow detecting paternal relationships, they typically fail to separate male relatives. Previously, we identified 13 Y‐STR markers with untypically high mutation rates (>10⁻²), termed rapidly mutating (RM) Y‐STRs, and showed that they improved male relative differentiation over standard Y‐STRs. By applying a newly developed in silico search approach to the Y‐chromosome reference sequence, we identified 27 novel RM Y‐STR candidates. Genotyping them in 1,616 DNA‐confirmed father–son pairs for mutation rate estimation empirically highlighted 12 novel RM Y‐STRs. Their capacity to differentiate males related by 1, 2, and 3 meioses was 27%, 47%, and 61%, respectively, while for all 25 currently known RM Y‐STRs, it was 44%, 69%, and 83%. Of the 647 Y‐STR mutations observed in total, almost all were single repeat changes, repeat gains, and losses were well balanced; allele length and fathers' age were positively correlated with mutation rate. We expect these new RM Y‐STRs, together with the previously known ones, to significantly improving male relative differentiation in future human genetic applications.

中文翻译：

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新型快速突变 Y 染色体短串联重复标记的鉴定和表征。

人类 Y 染色体 (Y-STR) 男性特异性部分的短串联重复多态性是人类遗传学许多领域的宝贵工具。尽管它们的父系遗传和中等突变率（每个减数分裂每个标记约 10 ^{-3 个}突变）允许检测父系关系，但它们通常无法分离男性亲属。以前，我们确定了 13 个 Y-STR 标记具有异常高的突变率 (>10 ^-2)，称为快速突变 (RM) Y-STR，并表明它们比标准 Y-STR 改善了男性的相对分化。通过将新开发的计算机搜索方法应用于 Y 染色体参考序列，我们确定了 27 个新的 RM Y-STR 候选对象。在 1,616 个 DNA 确认的父子对中对它们进行基因分型以进行突变率估计，凭经验突出了 12 个新的 RM Y-STR。它们区分与 1、2 和 3 个减数分裂相关的雄性的能力分别为 27%、47% 和 61%，而对于目前已知的所有 25 个 RM Y-STR，分别为 44%、69% 和 83%。在总共观察到的 647 个 Y-STR 突变中，几乎都是单重复变化，重复获得和损失得到了很好的平衡；等位基因长度和父亲年龄与突变率呈正相关。我们期待这些新的 RM Y-STR，连同之前已知的，