[Deletions within the gene of dystrophin in Duchenne and Becker muscular dystrophy].
DNA was isolated and analysed in 96 patients with Duchenne or Becker muscular dystrophy (DMD, BMD); 9 of them were affected with BMD. Delections were found in 60 Patients (62.5%) using six cDNA probes. In some cases the PCR technique was also applied. In patients with BMD all deletions but one were in frame and involved exons 45-54. On the contrary, most deletions in DMD were out of frame and varied in their location. In five families prenatal diagnosis was carried out.
Zimowski
J G
JG
Zakładu Genetyki, Instytutu Psychiatrii i Neurologii, Warszawie.
Bisko
M
M
Fidziańska
E
E
Hausmanowa-Petrusewicz
I
I
Badurska
B
B
Borkowska
J
J
Lusakowska
A
A
Fidziańska
A
A
Jezuita
J
J
Zaremba
J
J
D002891:Chromosomes, Human, Pair 21; D016189:Dystrophin / Q000235:genetics* / Q000302:isolation & purification; D005091:Exons / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D011296:Prenatal Diagnosis; D014960:X Chromosome
D016189:Dystrophin
Wystepowanie delecji w obrebie genu dystrofiny w dystrofii mieśniowej typu Duchenne'a i Backera.