DMD基因及其产物检测的临床价值

Value of detecing DMD gene and the protein product in diagnosis of DMD/BMD patients

目的针对ＤＭＤ基因的突变特点以及由此而产生的编码产物的异常，探讨ＤＭＤ基因及其编码产物──抗肌营养个良蛋白的检测对于诊断疾病的意义。方法用多重ＰＣＲ技术和免疫印迹技术对ＤＭＤ或ＢＭＤ患者的ＤＭＤ基因和抗肌营养不良蛋白进行了检测。结果３３．３％的ＤＭＤ患者虽然未被检测出基因的片段性缺失，但他们的抗肌营养不良蛋白却完全丧失。结论多重ＰＣＲ技术是检测ＤＭＤ基因片段性缺失的有效方法，但却无法检测出点突变等微小突变。兔疫印迹技术能反映由于各种类型的基因突变所造成的编码产物的缺陷，更有利于ＤＭＤ和ＢＭＤ的确实诊断，应将其作为主要的实验室检测指标之一。

Objective According to the character of DMD gene mutations and the gene coding product abnormalities, thevalue of diagnosis in DMD/BMD by detecting DMD gene and its protein product was discussed. Methods DMD gene anddystrophin were detected in DMD and BMD patients by multiplex PCR and Western blotting analysis. Results Dystrophin wasabsent in 33.3% of DMD patients although in whom the gene deletions were not observed. Conclusion Multiplex PCR is an ef-ficient technique for detecting DMD gene deletions, but it is unable to detect micro-mutations such as point mutations. Defi-ciency of the gene coding product resulting from any gene mutations can be detected by Westrn blotting. therefore, Westernblotting should be an important criterion for diagnosis of foe disease.