CAJ | 학술논문

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。
목적：조사대가계중Y-STR기인좌재감수분렬등위기인전체과정중적돌변현상。방법수집일개림성부계가계적163개남성개체구강식자양본，채용AGCU Y24형광검측시제합（AGCU Y24체계）진행22개Y-STR유전표기분형。AGCU Y24체계포함YfilerTM복합확증시제합（Yfiler체계）적전부16개Y-STR유전표기。비교해가계내남성개체량량지간적Y-STR분형차이。결과해림성가계163개남성개체재Yfiler화AGCU Y24체계분별획득20화30충단배형，남성개체량량지간단배형차이솔분별위0.9105화0.9227，평균유전표기차이수목분별위6.5821개화9.8248개。남성개체량량지간적단배형차이솔수착감수분렬차수증다이증가。결론 Y-STR돌변회사동일부계남성개체적Y-STR기인분형산생차이，수착감수분렬차수증다차이증가。
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 sys-tem), 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.