Zeng Y T, Chen M J, Ren Z R, Qui X K, Huang S Z
Surgical Institute of Medical Genetics, Shanghai Children's Hospital, People's Republic of China.
J Med Genet. 1991 Mar;28(3):167-70. 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 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.
对69名无亲缘关系的中国杜氏肌营养不良症（DMD）患者进行了一系列基因组和cDNA探针研究。对13个多态性位点的分析表明，pERT87 - 1、87 - 8、87 - 15和XJ探针在中国人群中具有良好的等位基因频率，本研究中近90%的DMD家系使用这四个多态性标记进行产前诊断和携带者检测时具有信息价值。使用一组基因组探针发现，69名患者中有9名（13%）也存在基因缺失。然而，使用cDNA探针时，56.5%的患者发现有缺失。缺失集中在探针7和8的区域，在本研究中约占所有缺失患者的80%。所有这些结果为中国DMD产前诊断方案的规划提供了有价值的信息。
