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[Study of the gene of Duchenne muscular dystrophy using PCR analysis]
M Villamar López1, E Fernández García, C Ramos Corrales
1Departamento de Genética, Fundación Jiménez Díaz, Madrid.
Anales Espanoles De Pediatria
|January 1, 1993
Abstract:
We have performed the polymerase chain reaction (PCR) to study 26 patients affected with Duchenne muscular dystrophy as a direct diagnostic method of screening for gene deletions. We have amplified simultaneously 9 sequences which belong to 9 exons located along the two "hot spots" of the gene. We have detected deletions in many of the exons in 11 of the 26 patients (42.3% of the cases).