Duchenne肌营养不良症(DMD)是一种致死性X-连锁隐性遗传病,发病率高,占活产男婴1/3,000～1/4,000,群体中携带者频率为1/2,300。危害严重,给家庭和社会造成严重的经济负担和精神负担。由于该病目前尚无有效的治疗方法,因此,检出致病基因携带者,指导生育,是防止患儿出生的有效途径。目前,检出携带者的方法很多,包括临床检查、血清学检查、血细胞学检查、肌组织学检查等。但是,这些异常指征并非在所有的携带者都能表现。这些方法中,有的很复杂,有的对人体有损伤。比较简便易行且应用最多的方法是血清学检查。 Duchenne muscular dystrophy (DMD) is a lethal X-linked recessive disease with a high prevalence, accounting for 1 in 3,000 to 1 in 4,000 of live-born infants and 1 in 2,300 in cohorts. Endangered, causing serious economic burden and mental burden to families and society. As the disease is currently no effective treatment, therefore, detection of carriers of pathogenic genes to guide the birth, is to prevent the birth of an effective way. Currently, there are many ways to detect carriers, including clinical examination, serological examination, blood cytology, and muscle histology. However, these abnormal signs do not show in all carriers. Some of these methods are complicated and some are damaging to the human body. The simplest and most widely used method is serological testing.