[Application of PCR technique in genetic diagnosis of Duchenne/Becker muscular dystrophy].
OBJECTIVE
To study the application of PCR technique in genetic detection of Duchenne/Becker muscular dystrophy (DMD/BMD).


METHODS
A multiple PCR system is established according to the multiple sites of DMD/BMD exon deletion. Under different PCR conditions, multiple exon deletions, single-strand conformation polymorphism, allopolyploid, chain labeling, restriction fragment length polymorphism and microsatellite phenomenon were examined in 23 DMD/BMD patients and 57 suspected carriers of these genes.


RESULTS
Fourteen of the 23 DMD/BMD patients were identified as having gene deletion, with another 2 carried gene duplicates. Forty female relatives of these 23 DMD/BMD patients were diagnosed as carriers of the genes.


CONCLUSIONS
This PCR system can be applied in detecting gene mutation of DMD/BMD, screening the carriers and in appropriate genealogical analysis of the patients with DMD/BMD.
Liu
Yong-Mei
YM
Department of Pediatrics, Zhujiang Hospital, First Military Medical University, Guangzhou 510282, China.
Feng
Zhi-Chun
ZC
Fang
Zhen-Wei
ZW
D019937:Diagnostic Techniques and Procedures; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis* / Q000235:genetics; D009154:Mutation; D016133:Polymerase Chain Reaction / Q000379:methods*; D020641:Polymorphism, Single Nucleotide