Genetic counselling in Duchenne and Becker muscular dystrophy is problematic when carrier studies give controversial results

DNA-analysis with flanking and intragenic markers gave confusing results in 7 out of 74 (9.5%) Finnish families with Duchenne or Becker muscular dystrophy. In five families a sister or maternal aunt of the patient had elevated serum creatine kinase (CK) activity, although DNA-analysis indicated a low risk for carriership. In one family the two affected brothers had different pERT87 alleles. In one family the intragenic deletion found in a patient was not present in his mother, who was an obligatory carrier. Deletions were detected with cDNA probes in the probands in five of the families, but the controversy regarding carriership still remained. It is necessary to combine all available data from pedigree analysis, CK measurements, and DNA studies whenever carrier studies are performed, but it appears that major problems in counselling and prenatal diagnosis will still remain in a proportion of the families.