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nvestigation of SINE, LINE, and LTR as Potential Breakpoint Regions in Detected CNVs in a Single-Center Study

Author

Listed:
  • Ali Torabi
  • Ali Çiçekli

    (Medical Genetics Research Associate, University of Selcuk, Faculty of Medicine, Department of Medical Genetics, Turkey)

  • Sara Razzaghi

    (Medical Student, University of Selcuk, Faculty of Medicine, Turkey)

  • Ebru MarzioÄŸlu Özdemir
  • Özkan BaÄŸcı

    (Assistant Professor, University of Selcuk, Faculty of Medicine, Department of Medical Genetics, Turkey)

  • Nadir Koçak

    (Associate Professor, University of Selcuk, Faculty of Medicine, Department of Medical Genetics, Turkey)

Abstract

Copy Number Variations (CNVs) represent significant sources of genetic diversity and are associated with vari- ous genetic disorders, including developmental, neuropsychiatric, and oncological conditions. While Low-Copy Repeats (LCRs) are well-documented as mediators of CNV formation through Non-Allelic Homologous Recom- bination (NAHR), the contributions of other repetitive elements such as short interspersed nuclear elements (SINEs), long Interspersed Nuclear Elements (LINEs), and Long Terminal Repeats (LTRs) remain underexplored. This study investigates the prevalence and role of these repetitive elements as breakpoint regions in CNVs de- tected in a single-center cohort.

Suggested Citation

  • Ali Torabi & Ali Çiçekli & Sara Razzaghi & Ebru MarzioÄŸlu Özdemir & Özkan BaÄŸcı & Nadir Koçak, 2024. "nvestigation of SINE, LINE, and LTR as Potential Breakpoint Regions in Detected CNVs in a Single-Center Study," Biomedical Journal of Scientific & Technical Research, Biomedical Research Network+, LLC, vol. 59(5), pages 52052-52055, December.
    • Handle: RePEc:abf:journl:v:59:y:2024:i:5:p:52052-52055
    DOI: 10.26717/BJSTR.2024.59.009376
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    References listed on IDEAS

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    JEL classification:

    • R00 - Urban, Rural, Regional, Real Estate, and Transportation Economics - - General - - - General
    • Z0 - Other Special Topics - - General

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