title: Detection of gene deletions in Chinese patients with Duchenne/Becker muscular dystrophy using CDNA probes and the polymerase chain reaction method.
abstract: One hundred thirty-eight patients with Duchenne/Becker muscular dystrophy (DMD/BMD) were screened with complete cDNA probes and the multiplex polymerase chain reaction (mPCR) amplification of 18 pairs of oligonucleotide primers. Eighty-six deletions and 4 duplications were detected, the deletion frequency being 62.3%. Eighty-two deletions were detected with the two sets of primers described by Chamberlain et al. and Beggs et al, which was 95.4% of deletions detected by complete cDNA probes. Consistent with the deletion locations described previously, the deletions of dystrophin gene in Chinese individuals are clustered mainly in two high-frequency deletion regions of exons 44-52 (68.6%) of 3' side of the gene central regions and exons 1-19 (26.7%) in the 5' side. The distribution of deletions in dystrophin gene is associated with the phenotype of DMD/BMD. In the 25 cases with in-frame deletions, 15 deletions located in the region of exons 2-47 were milder BMD and intermediate patients, as the location of deletions was not the important region of the dystrophin gene.
authors.affiliation: Department of Neurology, Neurological Research Institute, Tianjin Medical University General Hospital, People's Republic of China.
authors.forename: L
authors.initials: L
authors.lastname: Yuge
authors.forename: L
authors.initials: L
authors.lastname: Hui
authors.forename: X
authors.initials: X
authors.lastname: Bingdi
mesh_terms: D000293:Adolescent; D000328:Adult; D015139:Blotting, Southern; D002648:Child; D002675:Child, Preschool; D002681:China; D018076:DNA, Complementary / Q000235:genetics; D005091:Exons / Q000235:genetics; D020440:Gene Duplication; D005787:Gene Frequency; D005820:Genetic Testing; D006801:Humans; D007438:Introns / Q000235:genetics; D009136:Muscular Dystrophies / Q000235:genetics*; D010641:Phenotype; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion / Q000235:genetics*
chemical_list: D018076:DNA, Complementary