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.

journal_name

J Forensic Sci

authors

Ma Y,Kuang JZ,Zhu W,Yang Z,Wang YJ,Nie TG,Li C,Hou YP

doi

10.1111/j.1556-4029.2012.02145.x

subject

Has Abstract

pub_date

2012-11-01 00:00:00

pages

1630-3

issue

6

eissn

0022-1198

issn

1556-4029

journal_volume

57

pub_type

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