RESUMO
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.
RESUMO
Duchenne Muscular Dystrophy (DMD) gene analysis for 25 unrelated patients from Western India using PCR screening for 14 exons and the promoter region was carried out. Intragenic deletions were detected in 18 patients and most of them were located at the 3' hot spot region of the gene indicating that this part of the gene is more deletion prone in the Indian population from Western India as well. The frequency of deletions observed in the present study is 72%.
RESUMO
Fate of 32P-labelled pJ1-8N19 DNA was followed in the mutant strain N19 and wild type H. influenzae Rd, during post-uptake incubation. Integration of the insert fragment carrying novr gene into the host genome was measured at various time intervals during post-uptake incubation. Negligible amount of label transfer and no detectable transfer of biological activity (novr) was observed in mutant strain N19 compared to wild type strain Rd. These observations correlated poor extra chromosomal establishments of the donor plasmid in the mutant strain N19.