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A Y‐Chromosomal Haplotype with Two Short Tandem Repeat Mutations *
Author(s) -
Ma Yan,
Kuang JinZhi,
Zhu Wei,
Yang Zhi,
Wang YuJian,
Nie TongGang,
Li Chen,
Hou YiPing
Publication year - 2012
Publication title -
journal of forensic sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.715
H-Index - 96
eISSN - 1556-4029
pISSN - 0022-1198
DOI - 10.1111/j.1556-4029.2012.02145.x
Subject(s) - haplotype , genetics , locus (genetics) , null allele , microsatellite , biology , allele , genotyping , amplicon , str analysis , y str , microbiology and biotechnology , genotype , gene , polymerase chain reaction
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 AmpF l STR ® 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 9 bp 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.