Whole-Exome Sequencing Followed by dPCR-Based Personalized Genetic Approach in Solid Organ Transplantation: A Study Protocol and Preliminary Results
Bayanova M. Bolatov A. Malik D. Zhenissova A. Abdikadirova A. Sapargaliyeva M. Nazarova L. Myrzakhmetova G. Novikova S. Turganbekova A. Pya Y.
April 2025Multidisciplinary Digital Publishing Institute (MDPI)
Methods and Protocols
2025#8Issue 2
Genetic profiling and molecular biology methods have made it possible to study the etiology of the end-stage organ disease that led to transplantation, the genetic factors of compatibility and tolerance of the transplant, and the pharmacogenetics of immunosuppressive drugs and allowed for the development of monitoring methods for the early assessment of allograft rejection. This study aims to report the design and baseline characteristics of an integrated personalized genetic approach in solid organ transplantation, including whole-exome sequencing (WES) and the monitoring of dd-cfDNA by dPCR. Preliminary results reported female recipients with male donors undergoing two pediatric and five adult kidney and three heart transplantations. WES revealed a pathogenic mutation in RBM20 and VUS in TTN and PKP2 in heart recipients, while kidney donors presented mutations in UMOD and APOL1 associated with autosomal-dominant kidney diseases, highlighting the risks requiring the long-term monitoring of recipients, donors, and their family members. %dd-cfDNA levels were generally stable but elevated in cadaveric kidney recipient and one pediatric patient with infectious complications and genetic variants in the ABCB1 and ABCC2 genes. These findings highlight the potential of combining genetic and molecular biomarker-based approaches to improve donor–recipient matching, predict complications, and personalize post-transplant care, paving the way for precision medicine in transplantation.
clinical utility , dd-cfDNA , genetic testing , pharmacogenetics , transplantation , whole-exome sequencing
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Genetic Unit, Department of Laboratory Medicine, Pathology and Genetics, “University Medical Center” Corporate Fund, Astana, 010000, Kazakhstan
School of Medicine, Shenzhen University, Shenzhen, 518060, China
School of Medicine, Astana Medical University, Astana, 010000, Kazakhstan
Clinical Academic Department of Cardiology, “University Medical Center” Corporate Fund, Astana, 010000, Kazakhstan
Clinical Academic Department of Cardiac Surgery, “University Medical Center” Corporate Fund, Astana, 010000, Kazakhstan
HLA-Laboratory, Scientific-Production Center of Transfusiology, Astana, 010000, Kazakhstan
Genetic Unit
School of Medicine
School of Medicine
Clinical Academic Department of Cardiology
Clinical Academic Department of Cardiac Surgery
HLA-Laboratory
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