Tri-allelic patterns of STRs and partially homologous non-sister chromatid crossover observed in a parentage test |
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| Institution: | 1. CAS Key Laboratory of Genome Sciences and Information, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 100101, PR China;2. Department of Forensic Genetics, School of Forensic Science, XinXiang Medical University, Xin Xiang 453003, PR China;3. Beijing Police College, Beijing 102202, PR China;4. Key Laboratory of Genetics and Birth Health of Hunan Province, Family Planning Institute of Hunan Province, Changsha 410005, PR China;5. Hunan Tianheng Forensic Institute, Changsha 410005, PR China;6. School of Forensic Medicine, Shanxi Medical University, Taiyuan 030001, PR China;7. University of Chinese Academy of Sciences, Beijing 100049, PR China;8. Beijing Microread Genetics Co., Ltd, Beijing 100089, PR China;1. CAS Key Laboratory of Genome Sciences and Information, Beijing Institute ofGenomics, Chinese Academy of Sciences, Beijing, China;2. Beijing Police Colle, Beijing, China;3. University of Chinese Academy of Sciences, Beijing, China;4. BaYi Children’s Hospital, General Military Hospital of Beijing PLA, Beijing, China;5. Beijing Tongda Shoucheng Institute of Forensic Science, Beijing, China;6. Beijing Microread Genetics Co., Ltd, Beijing, China;1. Department of Forensic Medicine of Tongji Medical College, Huazhong University of Science and Technology, 13 Hangkong Road, Wuhan 430030, China;2. AGCU ScienTech Incorporation, Wuxi 214174, China;1. Division of Forensic Medicine and Toxicology, Level 1, Falmouth Building, University of Cape Town Faculty of Health Sciences, Observatory, Cape Town 7925, South Africa;2. Division of Anatomical Pathology, Level 4, Falmouth Building, University of Cape Tow Faculty of Health Sciences, Observatory, Cape Town 7925, South Africa;1. Collaborative Innovation Center of Judicial Civilization, Beijing 100088, PR China;2. Key Laboratory of Evidence Science (China University of Political Science and Law), Ministry of Education, Beijing 100088, PR China;3. Beijing Police College, Beijing 102022, PR China;4. College of Mathematics and Computer Science, Hunan Normal University, Changsha 410081, PR China;5. West China School of Preclinical and Forensic Medicine, Sichuan University, Chengdu 610041, PR China |
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| Abstract: | A maternity testing case is reported, in which the child showed tri-allelic patterns in two short tandem repeat (STR) loci. The genotypes of Penta D of the mother and the child were 9,13 and 9,10,13, respectively. Those of D21S11 were 32.2,35 and 29,35, respectively, but intensity ratio of alleles 29 and 35 of the child was 1:2. These results suggested the copy number variations (CNVs) or trisomy of chromosome 21. By further examination using STR-based chromosome aneuploidy detection kit, three alleles were detected in D21S1411, LFG21 and Penta D, and 2 alleles with intensity ratio of 1:2 were observed in D21S2502, D21S1435, D21S11 and D21S1246. Karyotype and whole-genome SNP array analyses showed that the child had a free trisomy 21. In addition, partially homologous non-sister chromatid crossover occurred at the region 19181770-39499178 on the long arm of chromosome 21. |
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| Keywords: | STR Parentage test Trisomy 21 |
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