Gene deletions in Japanese patients with Duchenne and Becker muscular dystrophies: deletion study and carrier detection.
Fifty unrelated Japanese patients with Duchenne and Becker muscular dystrophy (DMD and BMD) have been studied through use of the dystrophin cDNA probes. The 14-kb dystrophin cDNA was subdivided into six subclones, and Hind III-digested DNAs were analyzed by Southern blotting. Of 50 unrelated patients, 20 showed a deletion of one or several of the exon-containing Hind III fragments (40.0%). These corresponded to 50% (11/22) of BMD patients and 32.1% (9/28) of DMD patients, and the position and extent of deletions were mapped and proven to be more heterogeneous in DMD than in BMD. Both ends of deletions detected by probe 1-2a were common to all six BMD patients, and the 5' ends of deletions in probe 5b-7 were also common to four BMD patients. The phenotypic-specific deletion in Japanese BMD patients existed in the 5' end of the DMD gene, although an apparently similar deletion produced a wide range of clinical courses (BMD phenotype). Three out of eight females in DMD/BMD families were diagnosed as carriers through use of the junctional fragment and dosage analyses of dystrophin cDNA.
Asano
J
J
Department of Pediatrics, Gifu University, School of Medicine, Japan.
Tomatsu
S
S
Sukegawa
K
K
Ikedo
Y
Y
Minami
R
R
Iida
M
M
Nishimura
M
M
Nakagawa
M
M
Ohshiro
M
M
Orii
T
T
D000293:Adolescent; D000328:Adult; D015139:Blotting, Southern; D002648:Child; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D015342:DNA Probes; D015247:Deoxyribonuclease HindIII / Q000235:genetics; D004303:Dosage Compensation, Genetic; D016189:Dystrophin; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D007564:Japan; D008297:Male; D009136:Muscular Dystrophies / Q000145:classification / Q000453:epidemiology / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype
D015342:DNA Probes; D016189:Dystrophin; D015247:Deoxyribonuclease HindIII