Y-Chromosomal Haplotype with Two Short Tandem Repeat Mutations

• NCJ Number: 242533
• Journal: Journal of Forensic Sciences Volume: 57 Issue: 6 Dated: November 2012 Pages: 1630-1633
• Author(s): 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.
• Date Published: November 2012
• Length: 4 pages
• Publication Format: Article
• Publication Type: Report (Technical Assistance)
• Language: English
• Country: United States of America

Annotation

The male-specific Y-chromosomal short tandem repeat (STR) is a useful tool in forensic casework.

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. The researchers 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. Abstract published by arrangement with John Wiley & Sons.