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The problem of Duchenne muscular dystrophy
R G Worton1, P N Ray, S Bodrug
1Department of Genetics, Hospital for Sick Children, Toronto, Ontario, Canada.
Summary
Researchers have cloned the gene responsible for Duchenne muscular dystrophy (DMD), a severe X-linked disorder. This breakthrough enables new diagnostic tools for carrier identification and prenatal testing.
Area of Science:
- Genetics
- Molecular Biology
- Biochemistry
Background:
- Duchenne muscular dystrophy (DMD) is a fatal X-linked muscular disorder with an unknown biochemical defect.
- The gene responsible for DMD has been localized to chromosome band Xp21.
Purpose of the Study:
- To clone the gene responsible for Duchenne muscular dystrophy.
- To develop tools for carrier identification and prenatal diagnosis of DMD.
Main Methods:
- Isolation of genomic sequences (PERT 87 and XJ) from deletion and translocation breakpoints associated with DMD.
- Chromosome walking to isolate over 400 kilobases of the relevant genomic region.
- Analysis of restriction fragment length polymorphisms and hybridization with muscle-derived cDNA clones.
Main Results:
- Cloning of the DMD gene by two independent laboratories.
- Identification of restriction fragment length polymorphisms that segregate with the DMD gene.
- Detection of a large (16 kilobase) message using cDNA clones, suggesting a gene size of 2-3 million base pairs.
Conclusions:
- The cloned DMD gene and associated markers are valuable for developing diagnostic tools.
- These tools can aid in carrier identification and prenatal diagnosis of Duchenne muscular dystrophy.
- Further research can focus on generating antibodies against the gene product.