A Y‐Chromosomal Haplotype with Two Short Tandem Repeat Mutations* |
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Authors: | Yan Ma Ph.D. Jin‐Zhi Kuang M.D. Wei Zhu M.D. Zhi Yang M.D. Yu‐Jian Wang M.D. Tong‐Gang Nie M.D. Chen Li M.D. Yi‐Ping Hou Ph.D. |
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Affiliation: | 1. Department of Forensic Biology, West China School of Preclinical and Forensic Medicine, Sichuan University, Chengdu, 610041 Sichuan, China.;2. Institute of Forensic Science, Tianjin Public Security Bureau, 300194 Tianjin, China. |
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Abstract: | Abstract: The male‐specific Y‐chromosomal short tandem repeat (STR) is a useful tool in forensic casework. The Y haplotype comprised of 16 loci, which is amplified simultaneously by AmpFlSTR® YfilerTM PCR kit and provides strong exculpatory evidence in individual identification. We reported a rare Y‐STR profile with a null allele at the DYS448 locus and an off‐ladder allele at the DYS456 locus, when genotyping material from a vaginal swab in an alleged rape case. Sequence analysis revealed that the DYS448 null allele was a true type of null allele because of a total deletion of 11 upstream repeats and 9 bp of the N42 region, and there were numerous primer binding site mutations as well. The amplicon of the DYS456 locus was a small 92‐bp fragment that was off‐ladder, and sequencing analysis showed that there were only 10 repeats (AGAT)10. This Y chromosome haplotype that was comprised of two variations provided helpful evidence for personal identification. |
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Keywords: | forensic science Y‐chromosomal short tandem repeat Y chromosome haplotype DYS448 DYS456 null allele off‐ladder allele AmpFℓ STR® YfilerTM kit |
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