[Carrier detection in Duchenne/Becker muscular dystrophy in the families in which the DNA of the affected person is not available].
BACKGROUND
Duchenne muscular dystrophy (DMD) is a severe, progressive, X-linked muscular disease, which affects 1 in 3500 male newborns. The course of the other allelic form of the disease (Becker muscular dystrophy--BMD) is milder. Female relatives of affected subjects may carry the mutated gene.


OBJECTIVE
The purpose of this study was to detect the carrier among 23 families affected with DMD/BMD, in whom DNA from the deceased affected person was not available.


METHODS
The analysis of polymorphic sequences within the dystrophin gene was applied.


RESULTS
Informative results were obtained in 26 of 39 females examined (66%): 7 females were found to be carriers and 19 noncarriers. In one family the deletion could be detected in the mother and sister of the deceased proband.
Zimowski
Janusz G
JG
Zakład Genetyki, Instytut Psychiatrii i Neurologii, Al. Sobieskiego 9, 02-957 Warszawa, Poland.
Fidzianska
Elzbieta
E
Holding
Mariola
M
Zaremba
Jacek
J
D000328:Adult; D004252:DNA Mutational Analysis / Q000379:methods*; D005192:Family Health; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis / Q000235:genetics*; D011044:Poland; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020080:Tandem Repeat Sequences