title: A Y-chromosomal haplotype with two short tandem repeat mutations.
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(®) Yfiler(TM) 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 9bp of the N(42) 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.
authors.affiliation: Department of Forensic Biology, West China School of Preclinical and Forensic Medicine, Sichuan University, Chengdu, 610041 Sichuan, China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Ma
authors.forename: Jin-Zhi
authors.initials: JZ
authors.lastname: Kuang
authors.forename: Wei
authors.initials: W
authors.lastname: Zhu
authors.forename: Zhi
authors.initials: Z
authors.lastname: Yang
authors.forename: Yu-Jian
authors.initials: YJ
authors.lastname: Wang
authors.forename: Tong-Gang
authors.initials: TG
authors.lastname: Nie
authors.forename: Chen
authors.initials: C
authors.lastname: Li
authors.forename: Yi-Ping
authors.initials: YP
authors.lastname: Hou
mesh_terms: D000483:Alleles; D001483:Base Sequence; D041322:Chromosomes, Human, Y; D016172:DNA Fingerprinting; D004586:Electrophoresis; D005260:Female; D006239:Haplotypes; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D009154:Mutation; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA