[The molecular diagnosis of hereditary diseases. In memoriam Dr. Eduardo Aguirre Pequeño].
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.
Departamento de Bioquímica, Facultad de Medicina de la Universidad Autónoma de Nuevo León, Monterrey, N.L.
H A
HA
Barrera Saldaña
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A
Rojas Martínez
J A
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Rivera Pérez
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Vázquez Alemán
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González Garay
D015139:Blotting, Southern; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics; D004247:DNA / Q000235:genetics; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000235:genetics; D008040:Genetic Linkage; D015894:Genome, Human; D006467:Hemophilia A / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics; D016133:Polymerase Chain Reaction; D014960:X Chromosome
D004247:DNA
Diagnóstico molecular de enfermedades hereditarias. En memoria del académico doctor Eduardo Aguirre Pequeño.