Abstract

Sixty-nine unrelated Chinese DMD patients were studied with a series of genomic and cDNA probes. Analysis of 13 polymorphic sites showed that pERT87-1, 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.