Abstract Ref Number = APCP404
ANALYSIS OF DYSTROPHIN GENE DELETIONS BY MULTIPLEX PCR IN INDONESIAN DUCHENNE MUSCULAR DYSTROPHY PATIENTS
Kristy Iskandar,Ery Dwi Kustianingsih,Linda Pratiwi ,William Sumoro,Sunartini Hapsara
Department of Child Health Faculty of Medicine Nursing and Public Health Universitas Gadjah Mada UGM Academic Hospital Department of Anatomical Pathology, Faculty of Medicine, Nursing and Public Health, Universitas Gadjah Mada, Indonesia Department of Child Health, Faculty of Medicine, Nursing and Public HealthSardjito Teaching Hospital, Universitas Gadjah Mada, Indonesia
Background : Duchenne muscular dystrophy (DMD) are X-linked disease resulting from a defect in the dystrophin gene located on Xp21. DMD is the most frequent neuromuscular disease in humans. Deletions in the dystrophin gene represent the majority of mutations in DMD patients. The new emerging treatment (i.e. ataluren and eteplirsen) is tailored to specific mutation, thus molecular diagnostic is of importance. In this study we aimed to detect dystrophin gene deletions in Indonesian DMD patients.
Material : We recruited 29 DMD patients in Dr. Sardjito Teaching Hospital and UGM Academic Hospital, Yogyakarta from January 2017 to January 2018. Genomic DNA were isolated from peripheral blood, and analyzed using multiplex polymerase chain reaction (PCR) to screen the dystrophin gene deletions.
Results : Immunohistochemistry of muscle biopsies showing absence of dystrophin protein in all patients. The CK level was increased approximately 10 fold above normal level. We found dystrophin gene deletions in 11 cases by multiplex PCR. The frequency in Indonesian DMD patients is 38%. All deletions were clustered in the two known hot-spots regions (at exon 43-55, and exon 10-23), and 81% of cases deletions were detected in the region from exon 43 to exon 55. These findings are comparable to those reported in other studies.
Conclusions : Multiplex PCR is a one feasible methods to detect dystrophin gene deletion in Indonesian DMD patients. Furthermore, molecular diagnostic is minimally invasive and mandatory for establishment of genetics therapies for DMD.
Keywords: multiplex PCR dystrophin duchenne muscular dystrophy