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Gene deletions in Japanese patients with Duchenne and Becker muscular dystrophies: deletion study and carrier detection
Author(s) -
Asano JunIchi,
Tomatsu Shunji,
Sukegawa Kazuko,
Ikedo Yuko,
Minami Ryoji,
Iida Mitsuo,
Nishimura Masaaki,
Nakagawa Masanori,
Ohshiro Morio,
Orii Tadao
Publication year - 1991
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1991.tb03052.x
Subject(s) - dystrophin , duchenne muscular dystrophy , exon , phenotype , muscular dystrophy , southern blot , complementary dna , biology , microbiology and biotechnology , genetics , hindiii , gene , medicine , restriction enzyme
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.