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KBG Syndrome: Review of the Literature

  • Jisun Park;Ji Eun Lee
    • Journal of Interdisciplinary Genomics
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    • v.5 no.2
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    • pp.13-17
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    • 2023

  • KBG syndrome (KBGS) is a multisystem disorder characterized by short stature, distinctive facial features including macrodontia of upper central permanent incisors, and developmental/cognitive delay. It is caused by variants or deletion of Ankyrin Repeat Domain 11 (ANKRD11) located in chromosome 16q24.3. Since its initial report in 1975, KBG syndrome has been recognized as an exceedingly rare disorder. However, recent advancements in genetic diagnostic techniques have led to an increase in both the diagnosis rate and the number of reported cases, contributing to a rapid increase in its global prevalence. We review the clinical aspects of KBGS, including previously reported and newly reported cases, as well as the related genetic patterns discovered so far.

  • https://doi.org/10.22742/JIG.2023.5.2.13 인용 PDF

Developing Strain-Specific Simple Sequence Repeat (SSR) Markers for Chlorella sorokiniana

  • Mais Sweiss;Maen Hasan;Nidal Odat
    • Journal of Microbiology and Biotechnology
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    • v.34 no.9
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    • pp.1848-1856
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    • 2024

  • Chlorella sorokiniana green microalga offers many environmentally friendly applications, including wastewater treatment, biofertilizers, animal feed, and biofuel production. Different strains of C. sorokiniana have unique properties that may suit one application but not another. There is a need to distinguish between the many available strains of C. sorokiniana to choose the one that best fits the application. Consequently, our research goal was to develop strain-specific simple sequence repeat (SSR) markers to differentiate between the different strains. Seventeen markers spanning ten out of the twelve chromosomes of the C. sorokiniana genome were developed and validated on eight different strains from culture collections and our lab, and were then analyzed by fragment analysis. The results demonstrate the potential of these polymorphic markers to detect the genetic differences between the strains of C. sorokiniana, and to serve as useful tools for the intra-species population genetic analysis and conservation genetics studies of C. sorokiniana.

  • https://doi.org/10.4014/jmb.2404.04024 인용 PDF