Duchenne型肌营养不良基因诊断技术的发展及其哲学评析

Duchenne型肌营养不良（DMD）是发病率较高的神经系统遗传病，其基因突变机制复杂，探索简便、准确的基因突变检测技术是DMD研究的热点之一。随着分子生物学的进展，DMD基因诊断技术不断发展，经历了DNA印迹杂交、聚合酶链反应、生物芯片、多重连接探针扩增等。其发展过程带给我们许多哲学思考。

The Development of Gene Diagnoses on Duchenne Muscular Dystrophies and Philosophic Thinking

Duchenne muscular dystrophies （DMD） is a recessive neuromuscular disorder that from mutations in dystrophin gene, with high incidence. It is significant to find more feasible strategies for detecting mutations of dystrophin gene. With the development of molecule biology, gene diagnoses of DMD have made great progress, such as southern blotting, polymerase chain reaction, biochip, multiplex ligation--dependent probe amplification （MLPA）, et al. The history of its development gives us many philosophic thinking.