[The molecular diagnosis of hereditary diseases. In memoriam Dr. Eduardo Aguirre Pequeño]. / Diagnóstico molecular de enfermedades hereditarias. En memoria del académico doctor 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.

[The molecular genetics of cystic fibrosis: the delta F508 allele in Mexican families]. / Genética molecular de la fibrosis quistica: el alelo delta F508 en familias mexicanas.

We have initiated the screening of the delta F508 cystic fibrosis (CF) mutation in our country basing our study on the polymerase chain reaction technique. In a sample of 10 western and a northeastern Mexican families that have at least one CF affected child, we found a delta F508 frequency of 59.1% among CF chromosomes. This frequency is similar to those reported for Spain. Furthermore, we found a correlation between the delta F508 allele and pancreatic insufficiency. This paper points out the advantage of the polymerase chain reaction technology for the analysis of Mendelian disorders.