Identification of Dystrophin gene mutations in Duchenne Muscular Dystrophy patients of Balochistan.

Abstract

A study was conducted to identify mutation in the hot spot region of Dystrophin gene. The patients of Balochistan were selected for the study diagnosed with Duchene Muscular Dystrophy to check for mutations specific in local population. A sum of two patients and one control were identified and selected for the study, the Blood was collected by their consent. DNA was extracted from this blood samples which were taken in EDTA tubes by using the technique of salt method and PCR was performed to amplify the exon number 3, as it lies in one of the reported region for having mutations as it is present in the Proximal region of the chromosome. The amplified PCR product was then sent further for sequencing. The results of sequencing concluded that there were no mutations found in this region of dystrophin in selected patients.