[Molecular diagnosis in Huntington's disease].
Huntington's disease (HD) is a neurological degenerative disorder, inherited by an autosomal dominant mode, and caused by a CAG triplet expansion coding for a poly-glutamine sequence in the huntingtin protein. HD affects 5-10 in 100,000 individuals from Caucasian population. Clinically patients display motor, cognitive and psychological impairment, and death within 10-15 years. Concrete advances have been achieved in the knowledge of the mutational mechanism, alteration of the protein product and their neuropathological effects. A number of tests such as PCR with or without DNA modification, Southern blot and mixed methods are analyzed. We describe their characteristics and effectiveness for the molecular diagnosis of HD.
Rosales-Reynoso
Mónica Alejandra
MA
División de Genética, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jal., México.
Barros-Núñez
Patricio
P
D006801:Humans; D006816:Huntington Disease / Q000175:diagnosis* / Q000235:genetics; D025202:Molecular Diagnostic Techniques