Carrier detection by DNA analysis in Duchenne muscular dystrophy families.

ABSTRACT

We applied DNA analysis techniques to Turkish families whose members were afflicted with Duchenne/Becker muscular dystrophy. The aim of this study was to establish a prenatal diagnosis of this anomaly and to determine the carrier state. All of the techniques used in established diagnosis centers are now applied routinely in our laboratory. Both Southern analysis and polymerase chain reaction (PCR) methods were used for deletion detection in patients and restriction enzyme fragment length polymorphism (RFLP) determination for linkage analysis in women at risk. CA repeated sequence length polymorphism, the most recent technique for linkage analysis, was also applied. About 250 individuals from seventy-nine families were investigated and thirty-six entire families were screened. Twenty-five women were found to be carriers while thirty seven were non-carriers. The carrier state could not be determined in three women.