Abstract

A register of families with Duchenne muscular dystrophy (DMD) has been maintained in Wales since 1973. Since 1986 we have attempted to refine carrier status, and when necessary offer prenatal diagnosis, for those at significant risk by using intragenic probes. cDNA probes were included from the beginning of 1988. Thirty-four (30%) of the 115 women tested were assigned a risk of carrying the DMD gene of less than 5%. Thirty-three (29%) of the women at 5% or greater risk are now able to have prenatal diagnosis using a molecular deletion; such deletions were detected in 50% of affected boys. The remaining women could have prenatal diagnosis using a linked intragenic probe with an error rate varying between 0.25% and 9%. In 19 cases DNA samples from DMD boys who were dead at the time of analysis were used, indicating that it is essential to bank DNA from all males affected by DMD. We conclude that a large proportion of women at risk of carrying the DMD gene can now be helped by DNA studies.