ࡱ> #%"Y \ bjbjWW -==\] $ ! -OʈDNA ANALYSIS CONTRIBUTION TO DIAGNOSIS IN ADVANCED STAGES OF DMD/BMD Canki-Klain N, Milic A, Hecimovic S1, Tanackovic G.1, Rcan D2, Llense S2, Barbot JC2, Leturcq F2, Kaplan JC2, `oatarko M, Mitrovic Z, Pa~anin L., Turcic J., Sertic J, Bariaic N, Culic V., Bauer V., }agar M., Zurak N Zagreb University School of Medicine, Croatia; 1  Ruer Boakovi Institute; 2 Hpital Cochin Port-Royal, Paris, France Accurate genetic counseling and the advent of possible treatment of some muscular dystrophies urgently need the exact diagnosis. Our usual approach to DMD/BMD diagnosis is based primarily on clinical, laboratory, genealogical, and multiplex PCR. Using this strategy 60% of the dystrophin gene defects should be detected. For remaining 40% of patients the diagnosis has to be assesed by dystrophin Western blot. In some patients this approach is not possible either the advanced dystrophic process does not permit protein analysis or because of patients refusal. If DNA is available, the exhaustive genomic Southern blotting followed by application of SSCP analysis or systematic sequencing of the 79 exons and their flanking sequences can give the answer. In rare informative families linkage analysis can be useful.This strategy is illustrated by analysis of DMD/BMD patients seen at our department during last four years. Keywords: DMD/BMD, diagnosis, strategy 46LNdf2 = \ 6H*>*>.4 [ \  >.4 [ \ +0P. A!"#$n% [(@(NormalCJmH <A@<Default Paragraph Font\\ \ \ KLAINZC:\My Documents\kongresi\APPORT OF DNA ANALYSIS TO DIAGNOSIS IN ADVANCED STAGES OF DMD.docKLAINZC:\My Documents\kongresi\APPORT OF DNA ANALYSIS TO DIAGNOSIS IN ADVANCED STAGES OF DMD.docKLAINZC:\My Documents\kongresi\APPORT OF DNA ANALYSIS TO DIAGNOSIS IN ADVANCED STAGES OF DMD.docKLAINfC:\WINDOWS\TEMP\AutoRecovery save of APPORT OF DNA ANALYSIS TO DIAGNOSIS IN ADVANCED STAGES OF DMD.asdKLAINfC:\WINDOWS\TEMP\AutoRecovery save of APPORT OF DNA ANALYSIS TO DIAGNOSIS IN ADVANCED STAGES OF DMD.asdKLAINfC:\WINDOWS\TEMP\AutoRecovery save of APPORT OF DNA ANALYSIS TO DIAGNOSIS IN ADVANCED STAGES OF DMD.asdKLAINDA:\APPORT OF DNA ANALYSIS TO DIAGNOSIS IN ADVANCED STAGES OF DMD.docKLAINDA:\APPORT OF DNA ANALYSIS TO DIAGNOSIS IN ADVANCED STAGES OF DMD.docKLAIN&C:\My Documents\kongresi\DMD Capri.docDr Canki - Klajn&C:\My Documents\kongresi\DMD Capri.doc@sgg\@@@GTimes New Roman5Symbol3& Arial"1hߓDFQrDk  $0dlX=APPORT OF DNA ANALYSIS TO DIAGNOSIS IN ADVANCED STAGES OF DMDKLAINDr Canki - Klajn Oh+'0 8D ` l x >APPORT OF DNA ANALYSIS TO DIAGNOSIS IN ADVANCED STAGES OF DMD PPOKLAIN OLAI Normal.dotNDr Canki - KlajnLYS3 CMicrosoft Word 8.0S@ @᥿@jmB@n?ʈk ՜.+,D՜.+,l( hp  KLAINO lj >APPORT OF DNA ANALYSIS TO DIAGNOSIS IN ADVANCED STAGES OF DMD Title 6> _PID_GUIDAN{16FB4E9E-11DD-11D4-9A98-869E09D0A41D}  !$Root Entry F@)`4Oʈ&1Table WordDocument-SummaryInformation(DocumentSummaryInformation8CompObjjObjectPool4Oʈ4Oʈ  FMicrosoft Word Document MSWordDocWord.Document.89q