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Updated: May 8, 2026
09:16
Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
Characterization of copy number variation in genomic regions containing STR loci using array comparative genomic
Elena A Repnikova1, Jill A Rosenfeld, Andrea Bailes
1Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH 43205, USA.
Forensic Science International. Genetics
|August 17, 2013
Summary
Copy number variation (CNV) affects regions with short tandem repeat (STR) loci, impacting forensic analysis and human identification. This study found CNV at 9 of 13 CODIS STR loci and sex chromosomes, highlighting the need for further characterization.
Area of Science:
- Genetics
- Forensic Science
- Genomic Variation
Background:
- Short tandem repeat (STR) loci are crucial for forensic casework, familial analysis, and monitoring hematopoietic cell engraftment.
- Genetic variations in STR loci, such as copy number variation (CNV), can complicate interpretation in human identification and forensic casework.
- CNV, defined as variable genomic region copy numbers, is widespread, yet its association with STR loci has not been extensively studied.
Purpose of the Study:
- To investigate the presence and impact of copy number variation (CNV) in genomic regions containing the 13 Combined DNA Index System (CODIS) short tandem repeat (STR) loci and the Amelogenin (AMELX/AMELY) loci.
- To correlate findings from clinical array comparative genomic hybridization (CGH) with publicly available CNV data.
- To assess the implications of CNV on STR typing and human identification.
Main Methods:
- Analysis of 32,850 clinical array CGH samples to identify CNV in regions encompassing CODIS STR and AMELX/AMELY loci.
- Correlation of identified CNV with existing data from population studies and clinical cases.
- Examination of specific chromosomes (2, 4, 7, 11, 12, 13, 16, 21) for CNV involving STR loci.
Main Results:
- Copy number variation (CNV) was identified in regions containing 9 of the 13 CODIS STR loci.
- CNV involving the Amelogenin X (AMELX) and Amelogenin Y (AMELY) loci was detected in twelve individuals.
- Thirty-two individuals exhibited CNV affecting STR loci on various chromosomes, indicating a significant overlap between CNV and commonly used STR markers.
Conclusions:
- Copy number variation (CNV) is present in genomic regions of several widely used short tandem repeat (STR) loci, including CODIS markers and sex-determining loci.
- The findings underscore the importance of considering CNV when interpreting STR profiles for forensic and identification purposes.
- Further research characterizing STR profiles within CNV regions and cataloging these variants across diverse populations is essential for reliable genetic analysis.
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