多拷贝Y-STR基因座判型标准及家系排查应用  

Multicopy Y-STR Genotyping:Suggested Determinant Criteria and Application in Familial Investigation

作　　者：丁光树 孙辉 孙敬 袁丽萍 莫晓婷 宋文 尚蕾 李万水 DING Guangshu;SUN Hui;SUN Jing;YUAN Liping;MO Xiaoting;SONG Wen;SHANG Lei;LI Wanshui(Institute of Forensic Sciences,Ministry of Public Security,Beijing 100038,China)

机构地区：[1]公安部鉴定中心,北京100038

出　　处：《刑事技术》2022年第5期523-529,共7页Forensic Science and Technology

基　　金：中央级公益性科研院所基本科研业务费专项资金项目(2021JB006、2021JB028、2019JB033)。

摘　　要：研究多拷贝Y-STR基因座的拷贝数判定方法,探索多拷贝Y-STR基因座在家系排查中的应用效能。选取在多拷贝Y-STR基因座DYF399S1、DYS464、DYF371中出现分型异常的男性家系排查样本,分别扩增可能表征3个多拷贝Y-STR基因座拷贝数变化的内参基因BPY2、DAZ、CDY1,并检测判断它们在各样本相关于上述3个多拷贝Y-STR基因座的拷贝数,以此与根据分型图谱推测的预期值进行比较。在研究选取的样本中,内参基因实测拷贝数与预期拷贝数相符,表明可通过上述内参基因的检测分别判定DYF399S1、DYS464、DYF371的拷贝数变化。进一步结合多拷贝Y-STR的染色体定位,可初步推断Y染色体上的缺失或重复类型。本研究为男性家系排查样本多拷贝Y-STR异常分型的判定提供了一种简便实用的分析方法,初步提出了针对多拷贝Y-STR基因座的家系排查判定方案。Y染色体片段缺失或重复事件出现频率较高,因此可导致出现多拷贝Y-STR异常分型,对此应在今后的案件排查中留意重视。A method was here established for determining the copy numbers of multicopy Y-STR loci which to be also explored about the efficacy for familial investigation maneuver in relevant cases.Three reference genes of BPY2,DAZ and CDY1 were selected to amplify with the investigated male-pedigree samples bearing abnormal profiles related to three multicopy Y-STR loci(DYF399S1,DYS464,DYF371).Ratios were obtained with measuring and comparing the peak areas of the above genes against those of their homologous ones from the electropherograms of the amplified products,hence rendering the expected ratios by which whether the copy number had varied was to analyze for each of the three multicopy Y-STR loci.The measured copies of reference genes were consistent with the expected for most of the tested samples,indicating that the reference genes are eligible for determining the copy numbers of the three selected multicopy Y-STR loci.Y chromosomal deletion or duplication patterns can also be estimated for the investigated samples if the above results are to combine with the chromosomal locations of related multicopy loci.The method provided here is convenient to determine the abnormal profiles of multicopy Y-STR in relevant samples from cases.A novel familial investigation strategy has therefore been suggested about taking multicopy Y-STR into consideration.Certainly,the abnormal profiles of multicopy Y-STR loci should be paid much attention with the ever-increasing inclusion into forensic application of such Y chromosomal STR loci that are prone to occur with deletions and duplications.

关 键 词：法医遗传学 多拷贝Y-STR基因座 Y染色体片段缺失或重复 内参基因 家系排查 

分 类 号：DF795.2[医药卫生—法医学]