Dissimilar Deletion In DMD Gene Of Two Brothers : A Case Study.
Loading...
Date
1999-04
Journal Title
Journal ISSN
Volume Title
Publisher
Abstract
Two brothers who are affected by DMD were studied with respect to CPK assay, muscle biopsy and deletion analysis of their DNA. The severity of phenotype in these two brothers is comparable. Onset of the disease in both the cases was at 4 years of age. CPK values obtained at the age of 10 years for the elder brother and 6years for the younger one were 2550 IU and 1650 IU respectively. Muscle biopsy of the patients indicated dystrophy. PCR analysis of the patient's DNA was carried out for deletion detection in DMD gene. The deletion pattern observed for these two cases was found to be quite different from each other. In case of the elder brother, deletion was found to be expanding exons 8-13 whereas, for the younger brother exons 8-13 as well as exons 43-45 were found to be deleted.
Description
Keywords
Deletion, mutation, PCR, CPK
Citation
Joshi V P, Khalap N V, Khadilkar S V, Mahajan S K. Dissimilar Deletion In DMD Gene Of Two Brothers : A Case Study. Indian Journal of Human Genetics. 1999 Apr; 5(2): 5-9.