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Analysis of RFLPs and DNA deletions in the Chinese Duchenne muscular dystrophy gene


Analysis of RFLPs and DNA deletions in the Chinese Duchenne muscular dystrophy gene



Journal of Medical Genetics 28(3): 167-170



ISSN/ISBN: 0022-2593

PMID: 1675685

DOI: 10.1136/jmg.28.3.167

Sixty-nine unrelated Chinese DMD patients were studied with a series of genomic and cDNA probes. Analysis of 13 polymorphic sites showed that pERT8701, 87-8, 87-15, and XJ probes gave favourable allele frequencies in the Chinese population, and nearly 90% of the DMD families in this study were informative for prenatal diagnosis and carrier detection using these four polymorphic markers. Nine out of 69 (13%) were also found to have gene deletions using a panel of genomic probes. However, when using cDNA probes, deletions were found in 56.5% of the patients. The deletions were concentrated in the areas of probes 7 and 8, giving a proportion of about 80% of all deleted patients in this study. All these results provide valuable information for planning prenatal diagnosis programmes for DMD in China.

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Accession: 007017235

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