PHYSCI 121 Chapter Notes - Chapter N/A: Restriction Fragment Length Polymorphism, Prenatal Diagnosis, Dystrophin
Document Summary
In this review, we outline the process of gene and protein identification, discuss therapies currently being developed for dmd, and describe the tools required for translational research. Patients show progressive muscle wasting and weakness, leading to wheelchair dependency usually by the age of 10, assisted ventilation before the age of 20, and premature death in the second to fourth decade. One of the hallmarks of this progressive muscle wasting disease is the histological appearance of the muscle. The gene was known to reside on the x chromosome because generally only boys were affected, although occasionally their mothers presented with milder symptoms as symptomatic carriers. Intriguingly, at this time, a small number of girls with balanced x/autosome translocations were reported, which suggested that the gene might be at xp21 (33, 227, 245). In these cases, the translocated x chromosome remains active, and the normal x chromosome is inactive.
