Genetic variation for three Y-STR loci: DYS390, DYS518, and DYS643

Y chromosome short tandem repeats (Y-STRs) are commonly used to analyze male-specific DNA. Although biallelic patterns due to duplication events have been detected at some loci, Y-STRs generally appear as a single peak except for DYS385 because the Y chromosome is haploid. STR loci in regions of seg...

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Bibliographic Details
Published in:International journal of legal medicine 2019-07, Vol.133 (4), p.1007-1013
Main Authors: Park, Hyun-Chul, Lee, Eun-Jung, Nam, Youn-Hyung, Cho, Nam-Soo, Lim, Si-Keun, Kim, Won
Format: Article
Language:English
Subjects:
Case Report
Chromosomes
Chromosomes, Human, Y - genetics
Deoxyribonucleic acid
DNA
DNA Fingerprinting - methods
Forensic Genetics - methods
Forensic Medicine
Homology
Humans
Loci
Male
Medical Law
Medicine
Medicine & Public Health
Microsatellite Repeats - genetics
Polymerase Chain Reaction - methods
Reproduction (copying)
Tandem Repeat Sequences - genetics
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Summary:Y chromosome short tandem repeats (Y-STRs) are commonly used to analyze male-specific DNA. Although biallelic patterns due to duplication events have been detected at some loci, Y-STRs generally appear as a single peak except for DYS385 because the Y chromosome is haploid. STR loci in regions of segmental duplication by homologous recombination on the Y chromosome exhibit double allelic peaks, rather than single peaks. In this study, we report a bi- and triallelic pattern observed simultaneously in DYS390, DYS518, and DYS643. A bi- and triallelic pattern has not previously been observed simultaneously for these three loci. We also identified the copy number variation in the region including these loci by the microarray-based analysis. Given the peak balance pattern, the copy number variation, and the close position of these three loci on the Y chromosome, we consider that this phenomenon is caused by a segmental duplication in the euchromatin region. By ruling out mixed samples, a common interpretation of multiple peaks, these results have practical implications for the interpretation of Y-STR results in forensics analyses.
ISSN:0937-9827
1437-1596
DOI:10.1007/s00414-018-1947-9