期刊
INTERNATIONAL JOURNAL OF LEGAL MEDICINE
卷 135, 期 5, 页码 1737-1741出版社
SPRINGER
DOI: 10.1007/s00414-021-02592-1
关键词
Y-chromosome short tandem repeat (Y-STR); DYS385ab; Multi-alleles; Han Chinese population; Forensic DNA
资金
- Translational Medicine Foundation of Southwest Medical University [00031476, 00031477]
- Special Training Program for Young Science and Technology Talents from Southwest Medical University [00031726]
- Foundation of Southwest Medical University [2016-217-23]
- Joint Research Foundation of Luzhou City [2018LZXNYD-YL01]
- Southwest Medical University [2018LZXNYD-YL01]
- National Natural Science Foundation of China [30371493, 82073263, 81672887]
The study found abnormal multi-alleles at the DYS385ab locus in the Han Chinese population, suggesting frequent duplication events on the Y chromosome. This information provides insights for paternal lineage identification, kinship analysis, and family relationship reconstruction in this specific ethnic group.
Y-chromosome short tandem repeat (Y-STR) markers have been widely used in forensic applications and usually show monoallelic or diallelic genotypic patterns at certain double-copied loci. In this study, we have found 13 samples among 703 males with multi-alleles at the DYS385ab locus, including one with five mutant alleles, nine with four, and three with three. The frequency of abnormal DYS385ab genotypes was 1.85% (13/703), which is very high in the Han Chinese population. The percentage of samples with diallelic patterns at DYS385ab was higher than that of monoallelic patterns (80.23% vs. 17.92%). Additionally, the percentage of samples with tetra-allelic patterns at DYS385ab was higher than that of tri-allelic patterns (1.28% vs. 0.43%), suggesting that there are possibly two copies with duplicated events happening frequently on the Y chromosome. Interestingly, the peak height of allele 13 was two to three-folds higher than that of other alleles. The allele 18 peak height was also two-fold higher than others, which could potentially be explained by a duplication event mechanism. We also found that tri-allelic genotypes for alleles 13, 17, and 20, tetra-allelic genotypes for alleles 13, 14, 19, and 20, and tetra-allelic genotypes for alleles 12, 13, 19 and 21 were more common than others. Furthermore, all 13 samples had multi-alleles containing allele 13, implying a founder effect in this particular Chinese-specific ethnic group. Taken together, this study provides new information for this population and will be useful for paternal lineage identification, kinship analysis, and family relationship reconstruction using Y-STR forensic DNA analysis methods.
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