[Carrier's detection in families affected by Duchenne/Becker muscular dystrophy in which DNA from affected individuals is not available].
Carrier/noncarrier status of the mutated dystrophin gene was established in 9 females from four families with Duchenne/Becker muscular dystrophy, in which samples of DNA from the affected members were not available. Analysis of extra- and intragenic polymorphic segments of the dystrophin gene enabled identification of two female carriers and exclusion of carriership in four females. In three cases the results were not informative because of recombination in the analysed segment of the gene.
Bisko
M
M
Zakład Genetyki, Instytut Psychiatrii i Neurologii, Warszawa.
Zimowski
J G
JG
Fidziańska
E
E
Zaremba
J
J
D000483:Alleles; D004252:DNA Mutational Analysis; D016189:Dystrophin / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006580:Genetic Carrier Screening; D005820:Genetic Testing; D006801:Humans; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis* / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*
D016189:Dystrophin