Intragenic deletions in 164 boys with Duchenne muscular dystrophy (DMD) studied with dystrophin cDNA
- 28 June 1990
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 37 (6), 456-462
- https://doi.org/10.1111/j.1399-0004.1990.tb03530.x
Abstract
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.Keywords
This publication has 12 references indexed in Scilit:
- Frame-Shift Deletions in Patients with Duchenne and Becker Muscular DystrophyScience, 1988
- Partial gene duplication in Duchenne and Becker muscular dystrophies.Journal of Medical Genetics, 1988
- Further studies of gene deletions that cause Duchenne and Becker muscular dystrophiesGenomics, 1988
- Dystrophin: The protein product of the duchenne muscular dystrophy locusCell, 1987
- Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individualsCell, 1987
- A cDNA clone from the Duchenne/Becker muscular dystrophy geneNature, 1987
- Duchenne muscular dystrophy with adrenal insufficiency and glycerol kinase deficiency: high resolution cytogenetic analysis with molecular, biochemical, and clinical studies.Journal of Medical Genetics, 1986
- Localisation of the Becker muscular dystrophy gene on the short arm of the X chromosome by linkage to cloned DNA sequencesHuman Genetics, 1984
- A technique for radiolabeling DNA restriction endonuclease fragments to high specific activityAnalytical Biochemistry, 1983
- Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants.Proceedings of the National Academy of Sciences, 1977