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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.
A M Norman, and
M Upadhyaya, and
N S Thomas, and
K Roberts, and
P S Harper
January 1991,
Neurologia croatica : glasilo Udruzenja neurologa Jugoslavije = official journal of Yugoslav Neurological Association,
A M Norman, and
M Upadhyaya, and
N S Thomas, and
K Roberts, and
P S Harper
January 1993,
The Turkish journal of pediatrics,
A M Norman, and
M Upadhyaya, and
N S Thomas, and
K Roberts, and
P S Harper
December 1989,
Journal of neurology,
A M Norman, and
M Upadhyaya, and
N S Thomas, and
K Roberts, and
P S Harper
February 1989,
American journal of human genetics,
A M Norman, and
M Upadhyaya, and
N S Thomas, and
K Roberts, and
P S Harper
January 1996,
Methods in molecular medicine,
A M Norman, and
M Upadhyaya, and
N S Thomas, and
K Roberts, and
P S Harper
December 1986,
Journal of medical genetics,
A M Norman, and
M Upadhyaya, and
N S Thomas, and
K Roberts, and
P S Harper
December 1988,
Nucleic acids research,
A M Norman, and
M Upadhyaya, and
N S Thomas, and
K Roberts, and
P S Harper
February 1993,
BMJ (Clinical research ed.),
A M Norman, and
M Upadhyaya, and
N S Thomas, and
K Roberts, and
P S Harper
October 1989,
Australian paediatric journal,
A M Norman, and
M Upadhyaya, and
N S Thomas, and
K Roberts, and
P S Harper
January 1990,
European journal of pediatrics,
