Abstract
Duchenne muscular dystrophy (DMD) is X-linked recessive neuromuscular disease mapped in band Xp21. Since 1983 linkage of the disease to restriction fragment length polymorphism (RLFP) has been applied for genetic counseling. Recently DMD cDNA has been cloned so the possibility of direct detection of DMD gene mutation appears. The purpose of our study was to examine usefulness of cDNA probes for detection of deletions in DNA of polish patients.
Eleven DNA samples of DMD boys from 10 families were digested with enzyme Hind III and hybridized to labelled cDNA probes: 1-2a, 5b-7 and 8, supplied by ATCC.
In 5 out of total 11 DNA samples partial DMD gene deletions were found: in 2 patients it was located in the middle and in 3 patients on the proximal portion of the gene.
Our study suggests the testing all affected boys with cDNA probes for deletions is more cost-effective and faster than RLFP analysis. Besides in 40% of cases it provides an accurate genetic marker for subsequent prenatal diagnosis in the families.
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Popowska, E., Popowski, J., Krajewska-Walasek, M. et al. THE USE OF cDN A PROBES FOR DETECTION DELETIONS IN DNA OF DUCHENNE MUSCULAR DYSTROPHY BOYS. Pediatr Res 26, 515 (1989). https://doi.org/10.1203/00006450-198911000-00095
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DOI: https://doi.org/10.1203/00006450-198911000-00095