Prenatal diagnosis and carrier detection of Duchenne muscular dystrophy by restriction fragment length polymorphism analysis with pERT 87 deoxyribonucleic acid probes.

New methods of prenatal diagnosis based on recombinant deoxyribonucleic acid techniques are assuming increased importance in obstetrics practice. Carrier detection and prenatal diagnosis of Duchenne muscular dystrophy were performed with the use of three intragenic probes and four restriction enzymes to test six polymorphic sites. Twenty-seven families at risk for Duchenne muscular dystrophy were studied. Eleven at-risk pregnancies were studied; two affected males and four carrier females were predicted. Some families with a single affected individual were shown to have had a spontaneous mutation and were therefore at a much lower risk in future pregnancies.