RESUMO
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.
Assuntos
Doenças Genéticas Inatas/diagnóstico , Southern Blotting , Fibrose Cística/diagnóstico , Fibrose Cística/genética , DNA/genética , Doenças Genéticas Inatas/genética , Ligação Genética , Genoma Humano , Hemofilia A/diagnóstico , Hemofilia A/genética , Humanos , Distrofias Musculares/diagnóstico , Distrofias Musculares/genética , Reação em Cadeia da Polimerase , Cromossomo XRESUMO
In Mexico, about 30% of all malignant tumors in women are uterine cervix carcinomas. It is one of their main causes of death. We have previously shown that in Mexico City, 31% (5/16) of the analyzed tumoral samples contained HPV-16 DNA sequences. We have now extended this observation in Mexico City and included the city of Monterrey and found that the prevalence of HPV-16 is similar in both: 26% (6/23) for Monterrey and 29% (4/14) for Mexico City. HPV-18 was detected in only 10% (1/10) and 7% (1/14) of the tumors in these two populations when assayed with an HPV-18 specific probe. In both cities, the majority of the samples analyzed (including samples from the four stages of severity of the disease) contained integrated papillomavirus DNA sequences. Our results suggest that the mexican population contains a rather low proportion of HPV-16 and HPV-18 sequences in uterine-cervix carcinoma.