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Intragenic deletions in 164 boys with Duchenne muscular dystrophy (DMD) studied with dystrophin cDNA
Author(s) -
Upadhyaya M.,
Smith R. A.,
Thomas N. S. T.,
Norman A. M.,
Harper P. S.
Publication year - 1990
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.1399-0004.1990.tb03530.x
Subject(s) - complementary dna , duchenne muscular dystrophy , biology , microbiology and biotechnology , dystrophin , genetics , cdna library , muscular dystrophy , gene
DNA from 164 unrelated Duchenne muscular dystrophy patients was screened with cDNA probes from the dystrophin gene. Molecular deletions were demonstrated in 82 (50%) subjects. Sixty‐two deletions (76%) were detected using cDNA probes Cf56a (cDNA 8) and Cf56b (cDNA 6–7) which map to the centre of the gene, while 22 deletions (27%) mapped to the 5′ end of the gene. In three subjects, the deletion extended from the 5′ end to the centre of the gene. One deletion was identified by probe 47–4 (cDNA 5b‐7) alone. In six of the deletions, junction fragments of altered size were observed. Using the three cDNA probes, RW2kb, Cf56a (cDNA 8) and Cf56b (cDNA 6–7), 99% of the deletions were detected. This will have implications for prenatal diagnosis in deletion families. Unlike Becker muscular dystrophy, where the deletions are more homogeneous, the deletions in the present study were heterogeneous both in size and position. No correlation between intelligence and either site or extent of deletion was found.