Identification of carriers of Duchenne muscular dystrophy by microsatellite - DNA technique

Abstract

Duchenne muscular dystrophy (DMD) is one of the most common genetic disorder associated with sex chromosome X. Currently, there is no effective treatment; children with the disease show progressive muscle weakness, gradually losing their ability to walk. Detecting the carriers and giving genetic counseling is the most effective solution to help reduce disease incidents and reduce morbidity. This can be done with direct techniques such as Multiplex ligation-dependent probe amplification (MLPA) and sequencing of genes based on the mutations of patients. However, in some cases that are difficult to detect mutations due to large gene structure, indirect techniques such as microsatellite - DNA analysis can be applied. The study used the microsatellite - DNA technique and identified 5/5 mothers and 16/33 female members in the pedigrees of 5 families which have DMD patients are carriers