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Gac Med Mex. 1992 Nov-Dec;128(6):613-20; discussion 620-1.

[The molecular diagnosis of hereditary diseases. In memoriam Dr. Eduardo Aguirre Pequeño].

[Article in Spanish]

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Departamento de Bioquímica, Facultad de Medicina de la Universidad Autónoma de Nuevo León, Monterrey, N.L.


Accordingly, we have established in our unit a DNA diagnosis laboratory and have started molecular genetics and epidemiological studies of several inherited diseases. We have started with cystic fibrosis, muscular dystrophy and hemophilia A. We practice the molecular diagnosis with both, Southern transfer and the polymerase chain reaction, using either direct (detection of mutations) or indirect (restriction fragment length polymorphisms) approaches. With the studies we have so far carried out, we have been able to provide genetic counseling and gained valuable information on the type and frequency of mutation associated to these diseases in our region.

[Indexed for MEDLINE]

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