中文摘要：

目的：调查大家系中Y-STR基因座在减数分裂等位基因传递过程中的突变现象。方法收集一个林姓父系家系的163个男性个体口腔拭子样本，采用AGCU Y24荧光检测试剂盒（AGCU Y24体系）进行22个Y-STR遗传标记分型。AGCU Y24体系包含YfilerTM复合扩增试剂盒（Yfiler体系）的全部16个Y-STR遗传标记。比较该家系内男性个体两两之间的Y-STR分型差异。结果该林姓家系163个男性个体在Yfiler和AGCU Y24体系分别获得20和30种单倍型，男性个体两两之间单倍型差异率分别为0.9105和0.9227，平均遗传标记差异数目分别为6.5821个和9.8248个。男性个体两两之间的单倍型差异率随着减数分裂次数增多而增加。结论 Y-STR突变会使同一父系男性个体的Y-STR基因分型产生差异，随着减数分裂次数增多差异增加。

英文摘要：

Objective To explore the mutation of Y-STR loci in meiotic allelic transmission in a large pedigree. Methods The oral swabs of 163 male individuals were collected froma L in pedigree. Twenty-two Y-STR genetic markers were typed with AGCUY 24 fluorescent detection kit （AGCUY 24 system）, which also contained 16 Y-STR markers included in Y filerTmmultiple amplification kit （Y filer system）. The genotyping results of Y-STR loci were compared between each two males in the pedigree. Results There were 20 and 30 kinds of haplotypes obtained with Y filer and AGCUY 24 systems in 163 male individuals fromthe L in pedigree, respectively. The rates referred to haplotype differences （RRHD） of these two typing systems between male pairs were 0.910 5 and 0.922 7, respectively. The average number of marker differences were 6.582 1 and 9.824 8, respectively. The RRHDincreased along with the incidents of meiosis. Conclusion Y-STR mutation leads to different Y-STR haplotypes among the male members in a paternal pedigree and the rate of difference increases along with the incidents of meiosis.