Kaczmarczyk Grzegorz, Piniewska Danuta, Opolska-Bogusz Barbara, Sanak Marek
Z Katedry i Zakładu Medycyny Sadowej Collegium Medicum Uniwersytetu Jagiellońskiego Pracownia Hemogenetyki; ul. Grzegórzecka 16; 31-531 Kraków.
Arch Med Sadowej Kryminol. 2007 Jul-Sep;57(3):355-9.
An identification case is presented, in which a body of a deceased man was not recognized by his brother due to the corpse decomposition. The comparative material included DNA originating from the brother of the missing individual. In the Hemogenetics Laboratory of the Forensic Medicine Department, Jagiellonian University Medical College, bone tissue samples were genotyped for 16 STR loci on the chromosome Y and found concordant with the brother's reference sample, except a single locus DYS389I. Extended analysis for 15 autosomal STR loci confirmed that these men were brothers. Thus, a new mutation was encountered in DYSS389I. When included in the biostatistical calculations, the mutation did not diminish the cumulative likelihood ratio of sibship because of the very high likelihood based on autosomal loci analysis and nonexistence of the Y chromosome haplotypes in the known population databases.
本文介绍了一个身份鉴定案例，一名已故男子的尸体因尸体腐烂而未被其兄弟认出。比对材料包括来自失踪人员兄弟的DNA。在雅盖隆大学医学院法医学系的血液遗传学实验室，对骨组织样本进行了Y染色体上16个STR基因座的基因分型，发现除了一个基因座DYS389I外，与兄弟的参考样本一致。对15个常染色体STR基因座的进一步分析证实这些男子是兄弟。因此，在DYSS389I中发现了一个新的突变。当纳入生物统计学计算时，由于基于常染色体基因座分析的可能性非常高且已知人群数据库中不存在Y染色体单倍型，该突变并未降低兄弟关系的累积似然比。
